Canonical Allele Identifier: CA850078736
Gene:
gnomAD v4:

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.24186788C>G , CM000670.2:g.24186788C>G GRCh38
NC_000008.10:g.24044301C>G , CM000670.1:g.24044301C>G GRCh37
NC_000008.9:g.24100246C>G NCBI36

Transcript Alleles

HGVS Amino-acid Change
XR_001745844.1:n.139-18744C>G