Canonical Allele Identifier: CA220643994
Gene:

Linked Data

dbSNP Id: rs1053222661

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.34812598T>G , CM000673.2:g.34812598T>G GRCh38
NC_000011.9:g.34834145T>G , CM000673.1:g.34834145T>G GRCh37
NC_000011.8:g.34790721T>G NCBI36

Transcript Alleles

HGVS Amino-acid change
XR_428897.2:n.579+57991T>G
XR_931188.1:n.693+57991T>G
XR_931189.1:n.854+57991T>G
XR_931190.1:n.639+57991T>G
XR_931191.1:n.689+57991T>G
XR_001748174.1:n.855+57991T>G
XR_001748176.1:n.1016+57991T>G
XR_002957246.1:n.639+57991T>G