Canonical Allele Identifier: CA2593789013
Gene:

Linked Data

dbSNP Id: rs2120818241

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.28045077T>C , CM000674.2:g.28045077T>C GRCh38
NC_000012.11:g.28198010T>C , CM000674.1:g.28198010T>C GRCh37
NC_000012.10:g.28089277T>C NCBI36

Transcript Alleles

HGVS Amino-acid change
XR_931460.1:n.154-6119A>G