gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.42538472 (AFR)
Genomes Max Group AF
0.42538472 (AFR)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.98651667C>G , CM000677.2:g.98651667C>G | GRCh38 |
| NC_000015.9:g.99194896C>G , CM000677.1:g.99194896C>G | GRCh37 |
| NC_000015.8:g.97012419C>G | NCBI36 |
| NG_009492.1:g.7136C>G | |
| NG_045221.1:g.4555G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000649865.1:c.94+1992C>G | ENSP00000496919.1:n.94+1992C>G | |
| ENST00000650285.1:c.94+1992C>G MANE Select | ENSP00000497069.1:n.94+1992C>G | |
| ENST00000268035.10:c.94+1992C>G | ENSP00000268035.6:n.94+1992C>G | |
| ENST00000558762.5:c.94+1992C>G | ENSP00000453007.1:n.94+1992C>G | |
| ENST00000559925.5:n.94+1992C>G | ||
| NM_000875.4:c.94+1992C>G | NP_000866.1:n.94+1992C>G | |
| NM_001291858.1:c.94+1992C>G | NP_001278787.1:n.94+1992C>G | |
| XM_011521513.1:c.94+1992C>G | XP_011519815.1:n.94+1992C>G | |
| XM_011521514.1:c.94+1992C>G | XP_011519816.1:n.94+1992C>G | |
| XM_011521515.1:c.94+1992C>G | XP_011519817.1:n.94+1992C>G | |
| XM_017022139.1:c.-270+586C>G | XP_016877628.1:n.-270+586C>G | |
| NM_000875.5:c.94+1992C>G MANE Select | NP_000866.1:n.94+1992C>G | |
| NM_001291858.2:c.94+1992C>G | NP_001278787.1:n.94+1992C>G |