Canonical Allele Identifier: CA2381739177
Gene:

Linked Data

dbSNP Id: rs1601171687

Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.22259368C>G , CM000683.2:g.22259368C>G GRCh38
NC_000021.8:g.23631688C>G , CM000683.1:g.23631688C>G GRCh37
NC_000021.7:g.22553559C>G NCBI36

Transcript Alleles

HGVS Amino-acid Change
XR_001754978.1:n.221+46555C>G