Canonical Allele Identifier: CA229980974
Gene:

Linked Data

dbSNP Id: rs991768268

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.116072468C>A , CM000673.2:g.116072468C>A GRCh38
NC_000011.9:g.115943186C>A , CM000673.1:g.115943186C>A GRCh37
NC_000011.8:g.115448396C>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
XR_948055.1:n.192+546G>T
XR_948056.1:n.311-5263G>T
XR_948057.1:n.97+641G>T
XR_001748401.1:n.192+546G>T
XR_948055.2:n.192+546G>T
XR_948056.2:n.314-5263G>T
XR_948057.2:n.97+641G>T