Canonical Allele Identifier: CA1751305335
Gene:

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.148560961C= , CM000669.2:g.148560961C= GRCh38
NC_000007.13:g.148258053C= , CM000669.1:g.148258053C= GRCh37
NC_000007.12:g.147888986C= NCBI36

Transcript Alleles

HGVS Amino-acid change
XR_928099.1:n.300+7139G=
XR_928100.1:n.433+7139G=