Canonical Allele Identifier: CA214247
Gene:

Linked Data

ClinVar Variation Id: 36774
ClinVar RCV Id: RCV000030453
dbSNP Id: rs193922466

Genomic Alleles

HGVS Genome Assembly
NC_000024.10:g.634687A>G , CM000686.2:g.634687A>G GRCh38
NC_000024.9:g.545422A>G , CM000686.1:g.545422A>G GRCh37
NC_000024.8:g.515422A>G NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000711141.1:c.347A>G ENSP00000518639.1:p.Lys116Arg
ENST00000711142.1:c.347A>G ENSP00000518640.1:p.Lys116Arg
ENST00000711143.1:c.347A>G ENSP00000518641.1:p.Lys116Arg
ENST00000711145.1:c.347A>G ENSP00000518642.1:p.Lys116Arg