Canonical Allele Identifier: CA1817437251
Gene:

Linked Data

dbSNP Id: rs1815191547

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.125474107C>T , CM000670.2:g.125474107C>T GRCh38
NC_000008.10:g.126486349C>T , CM000670.1:g.126486349C>T GRCh37
NC_000008.9:g.126555531C>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
XR_928628.1:n.256+793C>T