Canonical Allele Identifier: CA1817442047
Gene:

Linked Data

dbSNP Id: rs1812784615

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.125478775T>C , CM000670.2:g.125478775T>C GRCh38
NC_000008.10:g.126491017T>C , CM000670.1:g.126491017T>C GRCh37
NC_000008.9:g.126560199T>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
XR_928628.1:n.256+5461T>C