Canonical Allele Identifier: CA166591539
Gene:

Linked Data

dbSNP Id: rs1030480743

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.124306305G>A , CM000669.2:g.124306305G>A GRCh38
NC_000007.13:g.123946359G>A , CM000669.1:g.123946359G>A GRCh37
NC_000007.12:g.123733595G>A NCBI36

Transcript Alleles

HGVS Amino-acid change
XR_002956584.1:n.73-173G>A