Canonical Allele Identifier: CA2381739123
Gene:

Linked Data

dbSNP Id: rs1981475957

Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.22259260G>A , CM000683.2:g.22259260G>A GRCh38
NC_000021.8:g.23631580G>A , CM000683.1:g.23631580G>A GRCh37
NC_000021.7:g.22553451G>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
XR_001754978.1:n.221+46447G>A