Canonical Allele Identifier: CA50218039
Gene:

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.67637543C>T , CM000664.2:g.67637543C>T GRCh38
NC_000002.11:g.67864675C>T , CM000664.1:g.67864675C>T GRCh37
NC_000002.10:g.67718179C>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
XR_001739524.1:n.65+13423G>A