Canonical Allele Identifier: CA658799942
Gene:

Linked Data

dbSNP Id: rs1384656900

Genomic Alleles

HGVS Genome Assembly
NC_000024.10:g.634702G>C , CM000686.2:g.634702G>C GRCh38
NC_000024.9:g.545437G>C , CM000686.1:g.545437G>C GRCh37
NC_000024.8:g.515437G>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000711141.1:c.362G>C ENSP00000518639.1:p.Arg121Pro
ENST00000711142.1:c.362G>C ENSP00000518640.1:p.Arg121Pro
ENST00000711143.1:c.362G>C ENSP00000518641.1:p.Arg121Pro
ENST00000711145.1:c.362G>C ENSP00000518642.1:p.Arg121Pro