Canonical Allele Identifier: CA658684335
Gene:

Linked Data

dbSNP Id: rs1556457962

Genomic Alleles

HGVS Genome Assembly
NC_000024.10:g.631133A>T , CM000686.2:g.631133A>T GRCh38
NC_000024.9:g.541868A>T , CM000686.1:g.541868A>T GRCh37
NC_000024.8:g.511868A>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000711141.1:c.236A>T ENSP00000518639.1:p.Lys79Met
ENST00000711142.1:c.236A>T ENSP00000518640.1:p.Lys79Met
ENST00000711143.1:c.236A>T ENSP00000518641.1:p.Lys79Met
ENST00000711145.1:c.236A>T ENSP00000518642.1:p.Lys79Met