gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.6045508 (AFR)
Genomes Max Group AF
0.59439776 (AFR)
Exomes Max Group AF
0.61440254 (AFR)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.122929802T>C , CM000674.2:g.122929802T>C | GRCh38 |
| NC_000012.11:g.123414349T>C , CM000674.1:g.123414349T>C | GRCh37 |
| NC_000012.10:g.121980302T>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000280560.13:c.*109A>G MANE Select | ENSP00000280560.8:n.*109A>G | |
| ENST00000280560.12:c.*109A>G | ENSP00000280560.8:n.*109A>G | |
| ENST00000344275.11:c.2040+2390A>G | ENSP00000456813.1:n.2040+2390A>G | |
| ENST00000346530.9:c.*109A>G | ENSP00000280559.7:n.*109A>G | |
| ENST00000392439.7:c.*109A>G | ENSP00000376234.3:n.*109A>G | |
| ENST00000442028.6:c.*109A>G | ENSP00000394898.2:n.*109A>G | |
| ENST00000442833.6:c.2040+2390A>G | ENSP00000456375.1:n.2040+2390A>G | |
| ENST00000540285.5:c.*109A>G | ENSP00000441734.1:n.*109A>G | |
| ENST00000542678.5:c.*109A>G | ENSP00000440288.1:n.*109A>G | |
| NM_001243013.1:c.*109A>G | NP_001229942.1:n.*109A>G | |
| NM_001243014.1:c.2040+2390A>G | NP_001229943.1:n.2040+2390A>G | |
| NM_019624.3:c.*109A>G | NP_062570.1:n.*109A>G | |
| NM_019625.3:c.*109A>G | NP_062571.1:n.*109A>G | |
| NM_203444.3:c.2040+2390A>G | NP_982269.2:n.2040+2390A>G | |
| XM_005253558.1:c.*109A>G | XP_005253615.1:n.*109A>G | |
| XM_011538095.1:c.*109A>G | XP_011536397.1:n.*109A>G | |
| XM_011538096.1:c.*109A>G | XP_011536398.1:n.*109A>G | |
| XM_011538097.1:c.2040+2390A>G | XP_011536399.1:n.2040+2390A>G | |
| XM_011538098.1:c.*109A>G | XP_011536400.1:n.*109A>G | |
| XR_429086.2:n.2314+2390A>G | ||
| XR_944513.1:n.2314+2390A>G | ||
| XM_005253558.2:c.*109A>G | XP_005253615.1:n.*109A>G | |
| XM_011538095.2:c.*109A>G | XP_011536397.1:n.*109A>G | |
| XM_011538096.2:c.*109A>G | XP_011536398.1:n.*109A>G | |
| XM_011538098.2:c.*109A>G | XP_011536400.1:n.*109A>G | |
| XM_017019103.1:c.*109A>G | XP_016874592.1:n.*109A>G | |
| XM_024448908.1:c.*109A>G | XP_024304676.1:n.*109A>G | |
| XR_001748645.2:n.2304+2390A>G | ||
| XR_001748646.2:n.2115+2390A>G | ||
| XR_001748647.2:n.2115+2390A>G | ||
| XR_001748648.2:n.2290+2390A>G | ||
| XR_002957301.1:n.2092+2390A>G | ||
| XR_429086.4:n.2304+2390A>G | ||
| NM_019625.4:c.*109A>G MANE Select | NP_062571.1:n.*109A>G | |
| NM_001243013.2:c.*109A>G | NP_001229942.1:n.*109A>G | |
| NM_001243014.2:c.2040+2390A>G | NP_001229943.1:n.2040+2390A>G | |
| NM_203444.4:c.2040+2390A>G | NP_982269.2:n.2040+2390A>G | |
| NM_019624.4:c.*109A>G | NP_062570.1:n.*109A>G |