Canonical Allele Identifier: CA10606022

Gene:

Linked Data

• dbSNP Id: rs532052827

Genomic Alleles

HGVS	Genome Assembly
NC_000024.10:g.634777T>C , CM000686.2:g.634777T>C	GRCh38
NC_000024.9:g.545512T>C , CM000686.1:g.545512T>C	GRCh37
NC_000024.8:g.515512T>C	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000711141.1:c.437T>C	ENSP00000518639.1:p.Met146Thr
ENST00000711142.1:c.437T>C	ENSP00000518640.1:p.Met146Thr
ENST00000711143.1:c.437T>C	ENSP00000518641.1:p.Met146Thr
ENST00000711145.1:c.437T>C	ENSP00000518642.1:p.Met146Thr