Canonical Allele Identifier: CA230077625
Gene:

Linked Data

dbSNP Id: rs558018380

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.116442621G>C , CM000673.2:g.116442621G>C GRCh38
NC_000011.9:g.116313338G>C , CM000673.1:g.116313338G>C GRCh37
NC_000011.8:g.115818548G>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
XR_001748403.1:n.349+31256C>G