Canonical Allele Identifier: CA2381739249
Gene:

Linked Data

dbSNP Id: rs1981486903

Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.22259488G>A , CM000683.2:g.22259488G>A GRCh38
NC_000021.8:g.23631808G>A , CM000683.1:g.23631808G>A GRCh37
NC_000021.7:g.22553679G>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
XR_001754978.1:n.221+46675G>A