Canonical Allele Identifier: CA2746557160
Gene:

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.168649513G>C , CM000663.2:g.168649513G>C GRCh38
NC_000001.10:g.168618751G>C , CM000663.1:g.168618751G>C GRCh37
NC_000001.9:g.166885375G>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
XR_922259.1:n.201-8238C>G
XR_922259.2:n.332-8238C>G