Canonical Allele Identifier: CA1100601197
Gene:

Linked Data

dbSNP Id: rs1784483727
gnomAD v3: 7-41782374-A-G
gnomAD v4: 7-41782374-A-G

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.41782374A>G , CM000669.2:g.41782374A>G GRCh38
NC_000007.13:g.41821972A>G , CM000669.1:g.41821972A>G GRCh37
NC_000007.12:g.41788497A>G NCBI36

Transcript Alleles

HGVS Amino-acid Change
XR_001745185.1:n.964+46660A>G
XR_001745186.1:n.954+46670A>G