Canonical Allele Identifier: CA315838306
Gene:

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.47796832G>C , CM000682.2:g.47796832G>C GRCh38
NC_000020.10:g.46425576G>C , CM000682.1:g.46425576G>C GRCh37
NC_000020.9:g.45858983G>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
XR_001754648.2:n.224-1625G>C