Canonical Allele Identifier: CA2520496918
Gene:

Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.22259468G>T , CM000683.2:g.22259468G>T GRCh38
NC_000021.8:g.23631788G>T , CM000683.1:g.23631788G>T GRCh37
NC_000021.7:g.22553659G>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
XR_001754978.1:n.221+46655G>T