Canonical Allele Identifier: CA2709923627
Gene:

Linked Data

dbSNP Id: rs2112824991

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.129386920C>G , CM000667.2:g.129386920C>G GRCh38
NC_000005.9:g.128722613C>G , CM000667.1:g.128722613C>G GRCh37
NC_000005.8:g.128750512C>G NCBI36

Transcript Alleles

HGVS Amino-acid change
XR_427770.2:n.163-1528C>G
XR_948774.1:n.235-5731C>G
XR_001742463.1:n.4089-1528C>G
XR_001742464.1:n.2019-5731C>G
XR_001742465.1:n.401-1528C>G
XR_427770.3:n.337-1528C>G