Canonical Allele Identifier: CA72256527
Gene:

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.30438593C>G , CM000665.2:g.30438593C>G GRCh38
NC_000003.11:g.30480085C>G , CM000665.1:g.30480085C>G GRCh37
NC_000003.10:g.30455089C>G NCBI36

Transcript Alleles

HGVS Amino-acid Change
XR_940682.1:n.416+2414G>C
XR_940683.1:n.328+2414G>C
XR_940686.1:n.1368-30440C>G
XR_940687.1:n.1416-30440C>G
XR_001740627.1:n.802-30440C>G
XR_001740628.1:n.850-30440C>G
XR_940683.2:n.293+2414G>C