Canonical Allele Identifier: CA1751305435
Gene:

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.148561037T= , CM000669.2:g.148561037T= GRCh38
NC_000007.13:g.148258129T= , CM000669.1:g.148258129T= GRCh37
NC_000007.12:g.147889062T= NCBI36

Transcript Alleles

HGVS Amino-acid Change
XR_928099.1:n.300+7063A=
XR_928100.1:n.433+7063A=