Canonical Allele Identifier: CA1158277240
Gene:

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.22164231C>T , CM000663.2:g.22164231C>T GRCh38
NC_000001.10:g.22490724C>T , CM000663.1:g.22490724C>T GRCh37
NC_000001.9:g.22363311C>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
XR_947057.1:n.113+735C>T
XR_947057.2:n.2534+735C>T