Canonical Allele Identifier: CA1580179122
Gene:

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.126002931C= , CM000667.2:g.126002931C= GRCh38
NC_000005.9:g.125338624C= , CM000667.1:g.125338624C= GRCh37
NC_000005.8:g.125366523C= NCBI36

Transcript Alleles

HGVS Amino-acid Change
XR_948737.1:n.565+3409G=
XR_948738.1:n.497+5609G=