Canonical Allele Identifier: CA1233161533
Gene:

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.638144G>C , CM000664.2:g.638144G>C GRCh38
NC_000002.11:g.638144G>C , CM000664.1:g.638144G>C GRCh37
NC_000002.10:g.628144G>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
XM_011510438.1:c.*572+760G>C XP_011508740.1:n.*572+760G>C