Canonical Allele Identifier: CA942547637
Gene:

Linked Data

dbSNP Id: rs1864211796

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.116072657C>A , CM000673.2:g.116072657C>A GRCh38
NC_000011.9:g.115943375C>A , CM000673.1:g.115943375C>A GRCh37
NC_000011.8:g.115448585C>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
XR_948055.1:n.192+357G>T
XR_948056.1:n.311-5452G>T
XR_948057.1:n.97+452G>T
XR_001748401.1:n.192+357G>T
XR_948055.2:n.192+357G>T
XR_948056.2:n.314-5452G>T
XR_948057.2:n.97+452G>T