Canonical Allele Identifier: CA126639

Gene: F13A1

Linked Data

• ClinVar Variation Id: 16533
• ClinVar RCV Id: RCV000017998 ; RCV003325450
• dbSNP Id: rs121913072
• ExAC: 6:6222398 C / T
• gnomAD v2: 6-6222398-C-T
• gnomAD v3: 6-6222165-C-T
• gnomAD v4: 6-6222165-C-T
• COSMIC: COSM5871003
• MyVariant Identifiers: chr6:g.6222398C>T (hg19) ; chr6:g.6222165C>T (hg38)
• PubMed: PMID:8547636 ; PMID:11167856

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.6222165C>T , CM000668.2:g.6222165C>T	GRCh38
NC_000006.11:g.6222398C>T , CM000668.1:g.6222398C>T	GRCh37
NC_000006.10:g.6167397C>T	NCBI36
NG_008107.1:g.103527G>A , LRG_549:g.103527G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264870.8:c.980G>A MANE Select	ENSP00000264870.3:p.Arg327Gln
ENST00000264870.7:c.980G>A	ENSP00000264870.3:p.Arg327Gln
ENST00000445223.1:c.130G>A
NM_000129.3:c.980G>A , LRG_549t1:c.980G>A	NP_000120.2:p.Arg327Gln
XM_006715010.2:c.980G>A	XP_006715073.1:p.Arg327Gln
XM_011514342.1:c.1142G>A	XP_011512644.1:p.Arg381Gln
NM_000129.4:c.980G>A MANE Select	NP_000120.2:p.Arg327Gln