Canonical Allele Identifier: CA1175240296
Gene:

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.72358030C>G , CM000663.2:g.72358030C>G GRCh38
NC_000001.10:g.72823713C>G , CM000663.1:g.72823713C>G GRCh37
NC_000001.9:g.72596301C>G NCBI36

Transcript Alleles

HGVS Amino-acid Change
XR_947505.1:n.310+74625C>G
XR_947506.1:n.310+74625C>G
XR_947507.1:n.310+74625C>G
XR_001737670.1:n.414+74625C>G
XR_001737671.2:n.418+74625C>G
XR_947505.2:n.414+74625C>G
XR_947506.2:n.414+74625C>G