Canonical Allele Identifier: CA1140130711
Gene:

Genomic Alleles

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

Transcript Alleles

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