Canonical Allele Identifier: CA2002397725
Gene:

Linked Data

dbSNP Id: rs2076948089

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.116072491T>G , CM000673.2:g.116072491T>G GRCh38
NC_000011.9:g.115943209T>G , CM000673.1:g.115943209T>G GRCh37
NC_000011.8:g.115448419T>G NCBI36

Transcript Alleles

HGVS Amino-acid Change
XR_948055.1:n.192+523A>C
XR_948056.1:n.311-5286A>C
XR_948057.1:n.97+618A>C
XR_001748401.1:n.192+523A>C
XR_948055.2:n.192+523A>C
XR_948056.2:n.314-5286A>C
XR_948057.2:n.97+618A>C