Canonical Allele Identifier: CA1223909867
Gene:

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.224068460C= , CM000663.2:g.224068460C= GRCh38
NC_000001.10:g.224256162C= , CM000663.1:g.224256162C= GRCh37
NC_000001.9:g.222322785C= NCBI36

Transcript Alleles

HGVS Amino-acid Change
XR_949173.1:n.385+806C=
XR_001737824.1:n.242+806C=