Canonical Allele Identifier: CA1751305314
Gene:

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.148560944G= , CM000669.2:g.148560944G= GRCh38
NC_000007.13:g.148258036G= , CM000669.1:g.148258036G= GRCh37
NC_000007.12:g.147888969G= NCBI36

Transcript Alleles

HGVS Amino-acid Change
XR_928099.1:n.300+7156C=
XR_928100.1:n.433+7156C=