Canonical Allele Identifier: CA2002397731
Gene:

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.116072508G= , CM000673.2:g.116072508G= GRCh38
NC_000011.9:g.115943226G= , CM000673.1:g.115943226G= GRCh37
NC_000011.8:g.115448436G= NCBI36

Transcript Alleles

HGVS Amino-acid Change
XR_948055.1:n.192+506C=
XR_948056.1:n.311-5303C=
XR_948057.1:n.97+601C=
XR_001748401.1:n.192+506C=
XR_948055.2:n.192+506C=
XR_948056.2:n.314-5303C=
XR_948057.2:n.97+601C=