gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.63326149 (EAS)
Genomes Max Group AF
0.63326149 (EAS)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.110091706A>G , CM000673.2:g.110091706A>G | GRCh38 |
| NC_000011.9:g.109962432A>G , CM000673.1:g.109962432A>G | GRCh37 |
| NC_000011.8:g.109467642A>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000645527.1:c.*757+32353T>C (RDX) | ENSP00000496121.1:n.*757+32353T>C | |
| XM_011543056.1:c.-73+3105A>G (ZC3H12C) | XP_011541358.1:n.-73+3105A>G |