Canonical Allele Identifier:
CA16155569
Gene:
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.58164438 (EAS)
Genomes Max Group AF
0.58164438 (EAS)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.117836372T>C , CM000665.2:g.117836372T>C | GRCh38 |
| NC_000003.11:g.117555219T>C , CM000665.1:g.117555219T>C | GRCh37 |
| NC_000003.10:g.119037909T>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| XR_001740491.2:n.440-107193A>G |