Canonical Allele Identifier: CA672122683
Gene:

Linked Data

dbSNP Id: rs1182119157

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.116072586A>G , CM000673.2:g.116072586A>G GRCh38
NC_000011.9:g.115943304A>G , CM000673.1:g.115943304A>G GRCh37
NC_000011.8:g.115448514A>G NCBI36

Transcript Alleles

HGVS Amino-acid Change
XR_948055.1:n.192+428T>C
XR_948056.1:n.311-5381T>C
XR_948057.1:n.97+523T>C
XR_001748401.1:n.192+428T>C
XR_948055.2:n.192+428T>C
XR_948056.2:n.314-5381T>C
XR_948057.2:n.97+523T>C