Canonical Allele Identifier: CA2830743223
Gene:

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.8137768G>A , CM000679.2:g.8137768G>A GRCh38
NC_000017.10:g.8041086G>A , CM000679.1:g.8041086G>A GRCh37
NC_000017.9:g.7981811G>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
XR_934202.1:n.183-1081G>A
XR_934203.1:n.70-1709G>A
XR_934202.2:n.414-1081G>A