Canonical Allele Identifier: CA229981177
Gene:

Linked Data

dbSNP Id: rs960125031

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.116072642A>G , CM000673.2:g.116072642A>G GRCh38
NC_000011.9:g.115943360A>G , CM000673.1:g.115943360A>G GRCh37
NC_000011.8:g.115448570A>G NCBI36

Transcript Alleles

HGVS Amino-acid Change
XR_948055.1:n.192+372T>C
XR_948056.1:n.311-5437T>C
XR_948057.1:n.97+467T>C
XR_001748401.1:n.192+372T>C
XR_948055.2:n.192+372T>C
XR_948056.2:n.314-5437T>C
XR_948057.2:n.97+467T>C