Canonical Allele Identifier: CA726278261
Gene:

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.13781600C>G , CM000679.2:g.13781600C>G GRCh38
NC_000017.10:g.13684917C>G , CM000679.1:g.13684917C>G GRCh37
NC_000017.9:g.13625642C>G NCBI36

Transcript Alleles

HGVS Amino-acid Change
XR_934240.1:n.375-3573G>C
XR_934241.1:n.375-4251G>C
XR_934242.1:n.188-4251G>C