Canonical Allele Identifier: CA1796404047
Gene:

Linked Data

dbSNP Id: rs1810028962

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.79191087A>C , CM000670.2:g.79191087A>C GRCh38
NC_000008.10:g.80103322A>C , CM000670.1:g.80103322A>C GRCh37
NC_000008.9:g.80265877A>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
XR_001745720.1:n.105+716A>C