Canonical Allele Identifier: CA1751305291
Gene:

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.148560920C= , CM000669.2:g.148560920C= GRCh38
NC_000007.13:g.148258012C= , CM000669.1:g.148258012C= GRCh37
NC_000007.12:g.147888945C= NCBI36

Transcript Alleles

HGVS Amino-acid change
XR_928099.1:n.300+7180G=
XR_928100.1:n.433+7180G=