Canonical Allele Identifier: CA672122695
Gene:

Linked Data

dbSNP Id: rs1254126579

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.116072590G>C , CM000673.2:g.116072590G>C GRCh38
NC_000011.9:g.115943308G>C , CM000673.1:g.115943308G>C GRCh37
NC_000011.8:g.115448518G>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
XR_948055.1:n.192+424C>G
XR_948056.1:n.311-5385C>G
XR_948057.1:n.97+519C>G
XR_001748401.1:n.192+424C>G
XR_948055.2:n.192+424C>G
XR_948056.2:n.314-5385C>G
XR_948057.2:n.97+519C>G