Canonical Allele Identifier: CA1689284705
Gene:

Linked Data

dbSNP Id: rs1780381877

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.13514231G>A , CM000669.2:g.13514231G>A GRCh38
NC_000007.13:g.13553856G>A , CM000669.1:g.13553856G>A GRCh37
NC_000007.12:g.13520381G>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
XR_001745097.1:n.148-188085G>A