Canonical Allele Identifier: CA3624171

Gene: F13A1

Linked Data

• ClinVar Variation Id: 357669
• ClinVar RCV Id: RCV000336928 ; RCV002523572
• dbSNP Id: rs371964182
• ExAC: 6:6152062 T / C
• gnomAD v2: 6-6152062-T-C
• gnomAD v3: 6-6151829-T-C
• gnomAD v4: 6-6151829-T-C
• MyVariant Identifiers: chr6:g.6152062T>C (hg19) ; chr6:g.6151829T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.6151829T>C , CM000668.2:g.6151829T>C	GRCh38
NC_000006.11:g.6152062T>C , CM000668.1:g.6152062T>C	GRCh37
NC_000006.10:g.6097061T>C	NCBI36
NG_008107.1:g.173863A>G , LRG_549:g.173863A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000264870.8:c.2029A>G MANE Select	ENSP00000264870.3:p.Met677Val
ENST00000264870.7:c.2029A>G	ENSP00000264870.3:p.Met677Val
NM_000129.3:c.2029A>G , LRG_549t1:c.2029A>G	NP_000120.2:p.Met677Val
XM_006715010.2:c.2029A>G	XP_006715073.1:p.Met677Val
XM_011514342.1:c.2191A>G	XP_011512644.1:p.Met731Val
NM_000129.4:c.2029A>G MANE Select	NP_000120.2:p.Met677Val