BRAF V600
Source
CIViC variant id 17: BRAF V600
Recipes that this example satisfies
None
Properties
id: civic.vid:17CIViC Variant ID, where vid stands for Variant ID, derived from the Variant ID contained within the CIViC URL for this genomic alteration.
type: CategoricalVariantThis value is required by the specification for all Categorical Variant objects.
name: BRAF V600Human-readable name for this variant.
description: BRAF V600 variants are missense amino acid substitutions that result in a change at valine 600, with V600E being the most common and V600K, V600M, V600R, and V600G also observed.This field was populated with an example value because CIViC does not provide a longform description.
aliases: NM_004333.6(BRAF) V600, NM_004333.6 V600Example aliases that include the MANE Select transcript for BRAF were included.
extensions: CIViC Representative Variant CoordinatesGRCh37 genomic coordinates on chromosome 7.
mappings: V600E (c.1799T>A), V600R (c.1798_1799delinsAG), V600K (c.1798_1799delinsAA), V600G (c.1799T>G), V600M (c.1798G>A)ClinVar variants corresponding to amino acid substitutions at BRAF V600 were included as relatedMatch mappings.
- Defining Location Constraint
The defining location is amino acid position 600 within the BRAF protein (refseq:NP_004324.2), the protein product of the MANE Select coding transcript for BRAF (refseq:NM_004333.6), corresponding to valine in the reference sequence. The
matchCharacteristicis set to “is_within”, meaning any variant whose affected residue falls within this position satisfies the constraint.
Members
The members field includes five VRS Allele objects generated using the VICC Variation Normalizer from the hgvs.c representations of BRAF:
V600E (NM_004333.6:c.1799T>A)
V600K (NM_004333.6:c.1798_1799delinsAA)
V600G (NM_004333.6:c.1799T>G)
V600M (NM_004333.6:c.1798G>A)
V600R (NM_004333.6:c.1798_1799delinsAG)
Full example: JSON
{
"id": "civic.vid:17",
"type": "CategoricalVariant",
"name": "BRAF V600",
"description": "BRAF V600 variants are missense amino acid substitutions that result in Valine changed. V600E is the most common substitution, but V600K, V600M, V600R, and V600G have also been observed.",
"aliases": [
"NM_004333.6(BRAF) V600",
"NM_004333.6 V600"
],
"extensions": [
{
"name": "CIViC Representative Variant Coordinates",
"value": {
"chromosome": "7",
"start": 140453136,
"stop": 140453137,
"reference_bases": "",
"variant_bases": "",
"representative_transcript": "ENST00000288602.6",
"ensembl_version": 75,
"reference_build": "GRCh37"
}
}
],
"constraints": [
{
"type": "DefiningLocationConstraint",
"location": {
"id": "ga4gh:SL.1ReS370wzmC9PGTn13XrnG8Ot7UAKYuw",
"description": "Amino acid position 600 within the BRAF protein (refseq:NP_004324.2), which is the protein product of the MANE Select (GRCh38) coding transcript for BRAF (refseq:NM_004333.6), corresponding to valine in the reference sequence.",
"type": "SequenceLocation",
"digest": "1ReS370wzmC9PGTn13XrnG8Ot7UAKYuw",
"sequenceReference": {
"id": "refseq:NP_004324.2",
"name": "NP_004324.2",
"description": "The protein product of the MANE Select (GRCh38) coding transcript for BRAF (refseq:NM_004333.6), corresponding to the Refseq protein accession NP_004324.2.",
"aliases": [
"ensembl:ENSP00000288602.6",
"ga4gh:SQ.cQvw4UsHHRRlogxbWCB8W-mKD4AraM9y"
],
"type": "SequenceReference",
"refgetAccession": "SQ.cQvw4UsHHRRlogxbWCB8W-mKD4AraM9y",
"residueAlphabet": "aa"
},
"start": 599,
"end": 600,
"sequence": "V"
},
"relations": [
{
"primaryCoding": {
"code": "translation_of",
"system": "http://www.sequenceontology.org",
"iris": [
"http://www.sequenceontology.org/browser/current_release/term/translation_of"
]
}
}
],
"matchCharacteristic": {
"primaryCoding": {
"code": "is_within",
"system": "ga4gh-gks-term:location-match"
}
}
}
],
"mappings": [
{
"coding": {
"system": "https://www.ncbi.nlm.nih.gov/clinvar/variation/",
"code": "13961",
"name": "NM_004333.6(BRAF):c.1799T>A (p.Val600Glu)",
"iris": [
"https://www.ncbi.nlm.nih.gov/clinvar/variation/13961"
]
},
"relation": "relatedMatch"
},
{
"coding": {
"system": "https://www.ncbi.nlm.nih.gov/clinvar/variation/",
"code": "375940",
"name": "NM_004333.6(BRAF):c.1798_1799delinsAG (p.Val600Arg)",
"iris": [
"https://www.ncbi.nlm.nih.gov/clinvar/variation/375940"
]
},
"relation": "relatedMatch"
},
{
"coding": {
"system": "https://www.ncbi.nlm.nih.gov/clinvar/variation/",
"code": "375941",
"name": "NM_004333.6(BRAF):c.1798_1799delinsAA (p.Val600Lys)",
"iris": [
"https://www.ncbi.nlm.nih.gov/clinvar/variation/375941"
]
},
"relation": "relatedMatch"
},
{
"coding": {
"system": "https://www.ncbi.nlm.nih.gov/clinvar/variation/",
"code": "40389",
"name": "NM_004333.6(BRAF):c.1799T>G (p.Val600Gly)",
"iris": [
"https://www.ncbi.nlm.nih.gov/clinvar/variation/40389"
]
},
"relation": "relatedMatch"
},
{
"coding": {
"system": "https://www.ncbi.nlm.nih.gov/clinvar/variation/",
"code": "44815",
"name": "NM_004333.6(BRAF):c.1798G>A (p.Val600Met)",
"iris": [
"https://www.ncbi.nlm.nih.gov/clinvar/variation/44815"
]
},
"relation": "relatedMatch"
}
],
"members": [
{
"id": "ga4gh:VA.W6xsV-aFm9yT2Bic5cFAV2j0rll6KK5R",
"type": "Allele",
"name": "NM_004333.6:c.1799T>A",
"description": "VRS variation of NM_004333.6:c.1799T>A, generated with the VICC Variation Normalizer (https://github.com/cancervariants/variation-normalization).",
"digest": "W6xsV-aFm9yT2Bic5cFAV2j0rll6KK5R",
"expressions": [
{
"syntax": "hgvs.c",
"value": "NM_004333.6:c.1799T>A"
}
],
"location": {
"id": "ga4gh:SL.8HBKs9fzlT3tKWlM03REjkg_0Om6Y33U",
"description": "Coding DNA (cDNA) position 1799 of the BRAF MANE Select coding transcript (refseq:NM_004333.6), corresponding to genomic position 140753336 on chromosome 7 (refseq:NC_000007.14, GRCh38).",
"extensions": [
{
"name": "GRCh38 1-based, genomic position",
"value": "chr7:140753336",
"description": "Genomic position 140,753,336 on chromosome 7 (refseq:NC_000007.14, GRCh38)."
},
{
"name": "GRCh38 1-based, inclusive interval",
"value": "chr7:140753336-140753336",
"description": "Genomic positions 140,753,336 to 140,753,336 on chromosome 7 (refseq:NC_000007.14, GRCh38); 1-based, inclusive interval notation."
},
{
"name": "GRCh38 0-based, half-open interval",
"value": "chr7:140753335-140753337",
"description": "Genomic positions 140,753,335 to 140,753,336 on chromosome 7 (refseq:NC_000007.14, GRCh38); 0-based, half-open interval notation."
}
],
"type": "SequenceLocation",
"digest": "8HBKs9fzlT3tKWlM03REjkg_0Om6Y33U",
"sequenceReference": {
"id": "refseq:NM_004333.6",
"name": "NM_004333.6",
"description": "The MANE Select (GRCh38) coding transcript for BRAF.",
"aliases": [
"ga4gh:SQ.aKMPEJgmlZXt_F6gRY5cUG3THH2n-GUa"
],
"type": "SequenceReference",
"refgetAccession": "SQ.aKMPEJgmlZXt_F6gRY5cUG3THH2n-GUa",
"residueAlphabet": "na"
},
"start": 2024,
"end": 2025,
"sequence": "T"
},
"state": {
"type": "LiteralSequenceExpression",
"sequence": "A"
}
},
{
"id": "ga4gh:VA.GIOeMJX8rJ-q9ZGqmFRIUOGnXQ5NARht",
"type": "Allele",
"name": "NM_004333.6:c.1798_1799delinsAA",
"description": "VRS variation of NM_004333.6:c.1798_1799delinsAA, generated with the VICC Variation Normalizer (https://github.com/cancervariants/variation-normalization).",
"digest": "GIOeMJX8rJ-q9ZGqmFRIUOGnXQ5NARht",
"expressions": [
{
"syntax": "hgvs.c",
"value": "NM_004333.6:c.1798_1799delinsAA"
}
],
"location": {
"id": "ga4gh:SL.SXY8ShFrBAfSvtO_sXLMQKN3Ozc5awgh",
"description": "Coding DNA (cDNA) positions 1798 to 1799 of the BRAF MANE Select coding transcript (refseq:NM_004333.6), corresponding to genomic positions 140753336 to 140753337 on chromosome 7 (refseq:NC_000007.14, GRCh38).",
"extensions": [
{
"name": "GRCh38 1-based, inclusive interval",
"value": "chr7:140753336-140753337",
"description": "Genomic positions 140,753,336 to 140,753,337 on chromosome 7 (refseq:NC_000007.14, GRCh38); 1-based, inclusive interval notation."
},
{
"name": "GRCh38 0-based, half-open interval",
"value": "chr7:140753335-140753337",
"description": "Genomic positions 140,753,335 to 140,753,337 on chromosome 7 (refseq:NC_000007.14, GRCh38); 0-based, half-open interval notation."
}
],
"type": "SequenceLocation",
"digest": "SXY8ShFrBAfSvtO_sXLMQKN3Ozc5awgh",
"sequenceReference": {
"id": "refseq:NM_004333.6",
"name": "NM_004333.6",
"description": "The MANE Select (GRCh38) coding transcript for BRAF.",
"aliases": [
"ga4gh:SQ.aKMPEJgmlZXt_F6gRY5cUG3THH2n-GUa"
],
"type": "SequenceReference",
"refgetAccession": "SQ.aKMPEJgmlZXt_F6gRY5cUG3THH2n-GUa",
"residueAlphabet": "na"
},
"start": 2023,
"end": 2025,
"sequence": "GT"
},
"state": {
"type": "LiteralSequenceExpression",
"sequence": "AA"
}
},
{
"id": "ga4gh:VA.PEphL_4Hx5JYuJPMzgu0pRQIUcz_J9p0",
"type": "Allele",
"name": "NM_004333.6:c.1799T>G",
"description": "VRS variation of NM_004333.6:c.1799T>G, generated with the VICC Variation Normalizer (https://github.com/cancervariants/variation-normalization).",
"digest": "PEphL_4Hx5JYuJPMzgu0pRQIUcz_J9p0",
"expressions": [
{
"syntax": "hgvs.c",
"value": "NM_004333.6:c.1799T>G"
}
],
"location": {
"id": "ga4gh:SL.8HBKs9fzlT3tKWlM03REjkg_0Om6Y33U",
"description": "Coding DNA (cDNA) positions 1799 of the BRAF MANE Select coding transcript (refseq:NM_004333.6), corresponding to genomic position 140753336 on chromosome 7 (refseq:NC_000007.14, GRCh38).",
"extensions": [
{
"name": "GRCh38 1-based, genomic position",
"value": "chr7:140753336",
"description": "Genomic position 140,753,336 on chromosome 7 (refseq:NC_000007.14, GRCh38)."
},
{
"name": "GRCh38 1-based, inclusive interval",
"value": "chr7:140753336-140753336",
"description": "Genomic positions 140,753,336 to 140,753,336 on chromosome 7 (refseq:NC_000007.14, GRCh38); 1-based, inclusive interval notation."
},
{
"name": "GRCh38 0-based, half-open interval",
"value": "chr7:140753335-140753336",
"description": "Genomic positions 140,753,335 to 140,753,336 on chromosome 7 (refseq:NC_000007.14, GRCh38); 0-based, half-open interval notation."
}
],
"type": "SequenceLocation",
"digest": "8HBKs9fzlT3tKWlM03REjkg_0Om6Y33U",
"sequenceReference": {
"id": "refseq:NM_004333.6",
"name": "NM_004333.6",
"description": "The MANE Select (GRCh38) coding transcript for BRAF.",
"aliases": [
"ga4gh:SQ.aKMPEJgmlZXt_F6gRY5cUG3THH2n-GUa"
],
"type": "SequenceReference",
"refgetAccession": "SQ.aKMPEJgmlZXt_F6gRY5cUG3THH2n-GUa",
"residueAlphabet": "na"
},
"start": 2024,
"end": 2025,
"sequence": "T"
},
"state": {
"type": "LiteralSequenceExpression",
"sequence": "G"
}
},
{
"id": "ga4gh:VA.O3Wd-kD48Dl1ihRUuf4vVybLaXYKFXnk",
"name": "NM_004333.6:c.1798G>A",
"description": "VRS variation of NM_004333.6:c.1799T>A, generated with the VICC Variation Normalizer (https://github.com/cancervariants/variation-normalization).",
"digest": "O3Wd-kD48Dl1ihRUuf4vVybLaXYKFXnk",
"expressions": [
{
"syntax": "hgvs.c",
"value": "NM_004333.6:c.1798G>A"
}
],
"type": "Allele",
"location": {
"id": "ga4gh:SL.1ReS370wzmC9PGTn13XrnG8Ot7UAKYuw",
"description": "Coding DNA (cDNA) position 1798 of the BRAF MANE Select coding transcript (refseq:NM_004333.6), corresponding to genomic position 140753337 on chromosome 7 (refseq:NC_000007.14, GRCh38).",
"extensions": [
{
"name": "GRCh38 1-based, genomic position",
"value": "chr7:140753337",
"description": "Genomic position 140,753,337 on chromosome 7 (refseq:NC_000007.14, GRCh38)."
},
{
"name": "GRCh38 1-based, inclusive interval",
"value": "chr7:140753337-140753337",
"description": "Genomic positions 140,753,337 to 140,753,337 on chromosome 7 (refseq:NC_000007.14, GRCh38); 1-based, inclusive interval notation."
},
{
"name": "GRCh38 0-based, half-open interval",
"value": "chr7:140753336-140753337",
"description": "Genomic positions 140,753,336 to 140,753,337 on chromosome 7 (refseq:NC_000007.14, GRCh38); 0-based, half-open interval notation."
}
],
"type": "SequenceLocation",
"digest": "1ReS370wzmC9PGTn13XrnG8Ot7UAKYuw",
"sequenceReference": {
"id": "refseq:NM_004333.6",
"name": "NM_004333.6",
"description": "The MANE Select (GRCh38) coding transcript for BRAF.",
"aliases": [
"ga4gh:SQ.aKMPEJgmlZXt_F6gRY5cUG3THH2n-GUa"
],
"type": "SequenceReference",
"refgetAccession": "SQ.aKMPEJgmlZXt_F6gRY5cUG3THH2n-GUa",
"residueAlphabet": "na"
},
"start": 2024,
"end": 2025,
"sequence": "G"
},
"state": {
"type": "LiteralSequenceExpression",
"sequence": "A"
}
},
{
"id": "ga4gh:VA.t97D17VsbiAa2U-znA-Qfx6DVInBd-_-",
"type": "Allele",
"name": "NM_004333.6:c.1798_1799delinsAG",
"description": "VRS variation of NM_004333.6:c.1799T>A, generated with the VICC Variation Normalizer (https://github.com/cancervariants/variation-normalization).",
"digest": "t97D17VsbiAa2U-znA-Qfx6DVInBd-_-",
"expressions": [
{
"syntax": "hgvs.c",
"value": "NM_004333.6:c.1798_1799delinsAG"
}
],
"location": {
"id": "ga4gh:SL.SXY8ShFrBAfSvtO_sXLMQKN3Ozc5awgh",
"description": "Coding DNA (cDNA) positions 1798 to 1799 of the BRAF MANE Select coding transcript (refseq:NM_004333.6), corresponding to genomic positions 140753336 to 140753337 on chromosome 7 (refseq:NC_000007.14, GRCh38).",
"extensions": [
{
"name": "GRCh38 1-based, inclusive interval",
"value": "chr7:140753336-140753337",
"description": "Genomic positions 140,753,336 to 140,753,337 on chromosome 7 (refseq:NC_000007.14, GRCh38); 1-based, inclusive interval notation."
},
{
"name": "GRCh38 0-based, half-open interval",
"value": "chr7:140753335-140753337",
"description": "Genomic positions 140,753,335 to 140,753,337 on chromosome 7 (refseq:NC_000007.14, GRCh38); 0-based, half-open interval notation."
}
],
"type": "SequenceLocation",
"digest": "SXY8ShFrBAfSvtO_sXLMQKN3Ozc5awgh",
"sequenceReference": {
"id": "refseq:NM_004333.6",
"name": "NM_004333.6",
"description": "The MANE Select (GRCh38) coding transcript for BRAF.",
"aliases": [
"ga4gh:SQ.aKMPEJgmlZXt_F6gRY5cUG3THH2n-GUa"
],
"type": "SequenceReference",
"refgetAccession": "SQ.aKMPEJgmlZXt_F6gRY5cUG3THH2n-GUa",
"residueAlphabet": "na"
},
"start": 2023,
"end": 2025,
"sequence": "GT"
},
"state": {
"type": "LiteralSequenceExpression",
"sequence": "AG"
}
}
]
}
Full example: YAML
id: civic.vid:17
type: CategoricalVariant
name: BRAF V600
description: >-
BRAF V600 variants are missense amino acid substitutions that result in Valine changed.
V600E is the most common substitution, but V600K, V600M, V600R, and V600G have also been observed.
aliases:
- NM_004333.6(BRAF) V600
- NM_004333.6 V600
extensions:
- name: CIViC Representative Variant Coordinates
value:
chromosome: '7'
start: 140453136
stop: 140453137
reference_bases: ''
variant_bases: ''
representative_transcript: ENST00000288602.6
ensembl_version: 75
reference_build: GRCh37
constraints:
- type: DefiningLocationConstraint
location:
id: ga4gh:SL.1ReS370wzmC9PGTn13XrnG8Ot7UAKYuw
description: Amino acid position 600 within the BRAF protein (refseq:NP_004324.2), which is the protein product of the MANE Select (GRCh38) coding transcript for BRAF (refseq:NM_004333.6), corresponding to valine in the reference sequence.
type: SequenceLocation
digest: 1ReS370wzmC9PGTn13XrnG8Ot7UAKYuw
sequenceReference:
id: refseq:NP_004324.2
name: NP_004324.2
description: The protein product of the MANE Select (GRCh38) coding transcript for BRAF (refseq:NM_004333.6), corresponding to the Refseq protein accession NP_004324.2.
aliases:
- ensembl:ENSP00000288602.6
- ga4gh:SQ.cQvw4UsHHRRlogxbWCB8W-mKD4AraM9y
type: SequenceReference
refgetAccession: SQ.cQvw4UsHHRRlogxbWCB8W-mKD4AraM9y
residueAlphabet: aa
start: 599
end: 600
sequence: V
relations:
- primaryCoding:
code: translation_of
system: http://www.sequenceontology.org
iris:
- http://www.sequenceontology.org/browser/current_release/term/translation_of
matchCharacteristic:
primaryCoding:
code: is_within
system: ga4gh-gks-term:location-match
mappings:
- coding:
system: https://www.ncbi.nlm.nih.gov/clinvar/variation/
code: '13961'
name: NM_004333.6(BRAF):c.1799T>A (p.Val600Glu)
iris:
- https://www.ncbi.nlm.nih.gov/clinvar/variation/13961
relation: relatedMatch
- coding:
system: https://www.ncbi.nlm.nih.gov/clinvar/variation/
code: '375940'
name: NM_004333.6(BRAF):c.1798_1799delinsAG (p.Val600Arg)
iris:
- https://www.ncbi.nlm.nih.gov/clinvar/variation/375940
relation: relatedMatch
- coding:
system: https://www.ncbi.nlm.nih.gov/clinvar/variation/
code: '375941'
name: NM_004333.6(BRAF):c.1798_1799delinsAA (p.Val600Lys)
iris:
- https://www.ncbi.nlm.nih.gov/clinvar/variation/375941
relation: relatedMatch
- coding:
system: https://www.ncbi.nlm.nih.gov/clinvar/variation/
code: '40389'
name: NM_004333.6(BRAF):c.1799T>G (p.Val600Gly)
iris:
- https://www.ncbi.nlm.nih.gov/clinvar/variation/40389
relation: relatedMatch
- coding:
system: https://www.ncbi.nlm.nih.gov/clinvar/variation/
code: '44815'
name: NM_004333.6(BRAF):c.1798G>A (p.Val600Met)
iris:
- https://www.ncbi.nlm.nih.gov/clinvar/variation/44815
relation: relatedMatch
members:
- id: ga4gh:VA.W6xsV-aFm9yT2Bic5cFAV2j0rll6KK5R
type: Allele
name: NM_004333.6:c.1799T>A
description: VRS variation of NM_004333.6:c.1799T>A, generated with the VICC Variation Normalizer (https://github.com/cancervariants/variation-normalization).
digest: W6xsV-aFm9yT2Bic5cFAV2j0rll6KK5R
expressions:
- syntax: hgvs.c
value: NM_004333.6:c.1799T>A
location:
id: ga4gh:SL.8HBKs9fzlT3tKWlM03REjkg_0Om6Y33U
description: Coding DNA (cDNA) position 1799 of the BRAF MANE Select coding transcript (refseq:NM_004333.6), corresponding to genomic position 140753336 on chromosome 7 (refseq:NC_000007.14, GRCh38).
extensions:
- name: GRCh38 1-based, genomic position
value: chr7:140753336
description: Genomic position 140,753,336 on chromosome 7 (refseq:NC_000007.14, GRCh38).
- name: GRCh38 1-based, inclusive interval
value: chr7:140753336-140753336
description: Genomic positions 140,753,336 to 140,753,336 on chromosome 7 (refseq:NC_000007.14, GRCh38); 1-based, inclusive interval notation.
- name: GRCh38 0-based, half-open interval
value: chr7:140753335-140753337
description: Genomic positions 140,753,335 to 140,753,336 on chromosome 7 (refseq:NC_000007.14, GRCh38); 0-based, half-open interval notation.
type: SequenceLocation
digest: 8HBKs9fzlT3tKWlM03REjkg_0Om6Y33U
sequenceReference:
id: refseq:NM_004333.6
name: NM_004333.6
description: The MANE Select (GRCh38) coding transcript for BRAF.
aliases:
- ga4gh:SQ.aKMPEJgmlZXt_F6gRY5cUG3THH2n-GUa
type: SequenceReference
refgetAccession: SQ.aKMPEJgmlZXt_F6gRY5cUG3THH2n-GUa
residueAlphabet: na
start: 2024
end: 2025
sequence: T
state:
type: LiteralSequenceExpression
sequence: A
- id: ga4gh:VA.GIOeMJX8rJ-q9ZGqmFRIUOGnXQ5NARht
type: Allele
name: NM_004333.6:c.1798_1799delinsAA
description: VRS variation of NM_004333.6:c.1798_1799delinsAA, generated with the VICC Variation Normalizer (https://github.com/cancervariants/variation-normalization).
digest: GIOeMJX8rJ-q9ZGqmFRIUOGnXQ5NARht
expressions:
- syntax: hgvs.c
value: NM_004333.6:c.1798_1799delinsAA
location:
id: ga4gh:SL.SXY8ShFrBAfSvtO_sXLMQKN3Ozc5awgh
description: Coding DNA (cDNA) positions 1798 to 1799 of the BRAF MANE Select coding transcript (refseq:NM_004333.6), corresponding to genomic positions 140753336 to 140753337 on chromosome 7 (refseq:NC_000007.14, GRCh38).
extensions:
- name: GRCh38 1-based, inclusive interval
value: chr7:140753336-140753337
description: Genomic positions 140,753,336 to 140,753,337 on chromosome 7 (refseq:NC_000007.14, GRCh38); 1-based, inclusive interval notation.
- name: GRCh38 0-based, half-open interval
value: chr7:140753335-140753337
description: Genomic positions 140,753,335 to 140,753,337 on chromosome 7 (refseq:NC_000007.14, GRCh38); 0-based, half-open interval notation.
type: SequenceLocation
digest: SXY8ShFrBAfSvtO_sXLMQKN3Ozc5awgh
sequenceReference:
id: refseq:NM_004333.6
name: NM_004333.6
description: The MANE Select (GRCh38) coding transcript for BRAF.
aliases:
- ga4gh:SQ.aKMPEJgmlZXt_F6gRY5cUG3THH2n-GUa
type: SequenceReference
refgetAccession: SQ.aKMPEJgmlZXt_F6gRY5cUG3THH2n-GUa
residueAlphabet: na
start: 2023
end: 2025
sequence: GT
state:
type: LiteralSequenceExpression
sequence: AA
- id: ga4gh:VA.PEphL_4Hx5JYuJPMzgu0pRQIUcz_J9p0
type: Allele
name: NM_004333.6:c.1799T>G
description: VRS variation of NM_004333.6:c.1799T>G, generated with the VICC Variation Normalizer (https://github.com/cancervariants/variation-normalization).
digest: PEphL_4Hx5JYuJPMzgu0pRQIUcz_J9p0
expressions:
- syntax: hgvs.c
value: NM_004333.6:c.1799T>G
location:
id: ga4gh:SL.8HBKs9fzlT3tKWlM03REjkg_0Om6Y33U
description: Coding DNA (cDNA) positions 1799 of the BRAF MANE Select coding transcript (refseq:NM_004333.6), corresponding to genomic position 140753336 on chromosome 7 (refseq:NC_000007.14, GRCh38).
extensions:
- name: GRCh38 1-based, genomic position
value: chr7:140753336
description: Genomic position 140,753,336 on chromosome 7 (refseq:NC_000007.14, GRCh38).
- name: GRCh38 1-based, inclusive interval
value: chr7:140753336-140753336
description: Genomic positions 140,753,336 to 140,753,336 on chromosome 7 (refseq:NC_000007.14, GRCh38); 1-based, inclusive interval notation.
- name: GRCh38 0-based, half-open interval
value: chr7:140753335-140753336
description: Genomic positions 140,753,335 to 140,753,336 on chromosome 7 (refseq:NC_000007.14, GRCh38); 0-based, half-open interval notation.
type: SequenceLocation
digest: 8HBKs9fzlT3tKWlM03REjkg_0Om6Y33U
sequenceReference:
id: refseq:NM_004333.6
name: NM_004333.6
description: The MANE Select (GRCh38) coding transcript for BRAF.
aliases:
- ga4gh:SQ.aKMPEJgmlZXt_F6gRY5cUG3THH2n-GUa
type: SequenceReference
refgetAccession: SQ.aKMPEJgmlZXt_F6gRY5cUG3THH2n-GUa
residueAlphabet: na
start: 2024
end: 2025
sequence: T
state:
type: LiteralSequenceExpression
sequence: G
- id: ga4gh:VA.O3Wd-kD48Dl1ihRUuf4vVybLaXYKFXnk
name: NM_004333.6:c.1798G>A
description: VRS variation of NM_004333.6:c.1799T>A, generated with the VICC Variation Normalizer (https://github.com/cancervariants/variation-normalization).
digest: O3Wd-kD48Dl1ihRUuf4vVybLaXYKFXnk
expressions:
- syntax: hgvs.c
value: NM_004333.6:c.1798G>A
type: Allele
location:
id: ga4gh:SL.1ReS370wzmC9PGTn13XrnG8Ot7UAKYuw
description: Coding DNA (cDNA) position 1798 of the BRAF MANE Select coding transcript (refseq:NM_004333.6), corresponding to genomic position 140753337 on chromosome 7 (refseq:NC_000007.14, GRCh38).
extensions:
- name: GRCh38 1-based, genomic position
value: chr7:140753337
description: Genomic position 140,753,337 on chromosome 7 (refseq:NC_000007.14, GRCh38).
- name: GRCh38 1-based, inclusive interval
value: chr7:140753337-140753337
description: Genomic positions 140,753,337 to 140,753,337 on chromosome 7 (refseq:NC_000007.14, GRCh38); 1-based, inclusive interval notation.
- name: GRCh38 0-based, half-open interval
value: chr7:140753336-140753337
description: Genomic positions 140,753,336 to 140,753,337 on chromosome 7 (refseq:NC_000007.14, GRCh38); 0-based, half-open interval notation.
type: SequenceLocation
digest: 1ReS370wzmC9PGTn13XrnG8Ot7UAKYuw
sequenceReference:
id: refseq:NM_004333.6
name: NM_004333.6
description: The MANE Select (GRCh38) coding transcript for BRAF.
aliases:
- ga4gh:SQ.aKMPEJgmlZXt_F6gRY5cUG3THH2n-GUa
type: SequenceReference
refgetAccession: SQ.aKMPEJgmlZXt_F6gRY5cUG3THH2n-GUa
residueAlphabet: na
start: 2024
end: 2025
sequence: G
state:
type: LiteralSequenceExpression
sequence: A
- id: ga4gh:VA.t97D17VsbiAa2U-znA-Qfx6DVInBd-_-
type: Allele
name: NM_004333.6:c.1798_1799delinsAG
description: VRS variation of NM_004333.6:c.1799T>A, generated with the VICC Variation Normalizer (https://github.com/cancervariants/variation-normalization).
digest: t97D17VsbiAa2U-znA-Qfx6DVInBd-_-
expressions:
- syntax: hgvs.c
value: NM_004333.6:c.1798_1799delinsAG
location:
id: ga4gh:SL.SXY8ShFrBAfSvtO_sXLMQKN3Ozc5awgh
description: Coding DNA (cDNA) positions 1798 to 1799 of the BRAF MANE Select coding transcript (refseq:NM_004333.6), corresponding to genomic positions 140753336 to 140753337 on chromosome 7 (refseq:NC_000007.14, GRCh38).
extensions:
- name: GRCh38 1-based, inclusive interval
value: chr7:140753336-140753337
description: Genomic positions 140,753,336 to 140,753,337 on chromosome 7 (refseq:NC_000007.14, GRCh38); 1-based, inclusive interval notation.
- name: GRCh38 0-based, half-open interval
value: chr7:140753335-140753337
description: Genomic positions 140,753,335 to 140,753,337 on chromosome 7 (refseq:NC_000007.14, GRCh38); 0-based, half-open interval notation.
type: SequenceLocation
digest: SXY8ShFrBAfSvtO_sXLMQKN3Ozc5awgh
sequenceReference:
id: refseq:NM_004333.6
name: NM_004333.6
description: The MANE Select (GRCh38) coding transcript for BRAF.
aliases:
- ga4gh:SQ.aKMPEJgmlZXt_F6gRY5cUG3THH2n-GUa
type: SequenceReference
refgetAccession: SQ.aKMPEJgmlZXt_F6gRY5cUG3THH2n-GUa
residueAlphabet: na
start: 2023
end: 2025
sequence: GT
state:
type: LiteralSequenceExpression
sequence: AG