Canonical Allele Identifier: CA1817441886
Gene:

Linked Data

dbSNP Id: rs1812776728

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.125478573T>C , CM000670.2:g.125478573T>C GRCh38
NC_000008.10:g.126490815T>C , CM000670.1:g.126490815T>C GRCh37
NC_000008.9:g.126559997T>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
XR_928628.1:n.256+5259T>C