Canonical Allele Identifier: CA2709808250
Gene:

Linked Data

dbSNP Id: rs1780760373

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.113714813A>C , CM000667.2:g.113714813A>C GRCh38
NC_000005.9:g.113050510A>C , CM000667.1:g.113050510A>C GRCh37
NC_000005.8:g.113078409A>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
XR_001742840.1:n.153-18748A>C