Canonical Allele Identifier: CA1349199051
Gene:

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.18975894G= , CM000665.2:g.18975894G= GRCh38
NC_000003.11:g.19017386G= , CM000665.1:g.19017386G= GRCh37
NC_000003.10:g.18992390G= NCBI36

Transcript Alleles

HGVS Amino-acid Change
XR_940638.1:n.437+7656C=
XR_001740612.1:n.774+7656C=
XR_001740613.1:n.303+9487G=
XR_001740614.1:n.303+9487G=
XR_001740615.1:n.304+9487G=
XR_001740616.1:n.304+9487G=