Canonical Allele Identifier: CA2002397718
Gene:

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.116072480C= , CM000673.2:g.116072480C= GRCh38
NC_000011.9:g.115943198C= , CM000673.1:g.115943198C= GRCh37
NC_000011.8:g.115448408C= NCBI36

Transcript Alleles

HGVS Amino-acid Change
XR_948055.1:n.192+534G=
XR_948056.1:n.311-5275G=
XR_948057.1:n.97+629G=
XR_001748401.1:n.192+534G=
XR_948055.2:n.192+534G=
XR_948056.2:n.314-5275G=
XR_948057.2:n.97+629G=