Canonical Allele Identifier: CA2284239385
Gene:

Linked Data

dbSNP Id: rs1968769428

Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.10321331T>C , CM000680.2:g.10321331T>C GRCh38
NC_000018.9:g.10321328T>C , CM000680.1:g.10321328T>C GRCh37
NC_000018.8:g.10311328T>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
XR_935138.1:n.665+817A>G
XR_001753344.1:n.650+817A>G
XR_001753345.1:n.790A>G
XR_001753346.1:n.549+817A>G