gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.02598318 (EAS)
Genomes Max Group AF
0.00941771 (EAS)
Exomes Max Group AF
0.02787069 (EAS)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.72735933C>G , CM000677.2:g.72735933C>G | GRCh38 |
| NC_000015.9:g.73028274C>G , CM000677.1:g.73028274C>G | GRCh37 |
| NC_000015.8:g.70815327C>G | NCBI36 |
| NG_009416.2:g.54749C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000268057.9:c.1215C>G MANE Select | ENSP00000268057.4:p.Leu405= | |
| ENST00000268057.8:c.1215C>G | ENSP00000268057.4:p.Leu405= | |
| ENST00000395205.6:c.699C>G | ENSP00000378631.3:p.Leu233= | |
| ENST00000562084.5:c.*1294C>G | ENSP00000454718.1:n.*1294C>G | |
| ENST00000566197.1:c.260C>G | ||
| ENST00000566400.5:c.*1105C>G | ENSP00000456759.1:n.*1105C>G | |
| ENST00000567279.5:c.*1069C>G | ENSP00000456664.1:n.*1069C>G | |
| ENST00000568535.1:n.417C>G | ||
| NM_001252678.1:c.699C>G | NP_001239607.1:p.Leu233= | |
| NM_033028.4:c.1215C>G | NP_149017.2:p.Leu405= | |
| NR_045565.1:n.1322C>G | ||
| NR_045566.1:n.1577C>G | ||
| XM_006720625.2:c.1146C>G | XP_006720688.1:p.Leu382= | |
| XM_011521848.1:c.699C>G | XP_011520150.1:p.Leu233= | |
| XM_011521849.1:c.699C>G | XP_011520151.1:p.Leu233= | |
| XM_011521850.1:c.699C>G | XP_011520152.1:p.Leu233= | |
| XM_011521851.1:c.483C>G | XP_011520153.1:p.Leu161= | |
| NM_001320665.1:c.1146C>G | NP_001307594.1:p.Leu382= | |
| XM_017022450.1:c.1170C>G | XP_016877939.1:p.Leu390= | |
| XM_017022452.1:c.699C>G | XP_016877941.1:p.Leu233= | |
| XM_017022453.1:c.699C>G | XP_016877942.1:p.Leu233= | |
| XM_017022454.1:c.699C>G | XP_016877943.1:p.Leu233= | |
| NM_033028.5:c.1215C>G MANE Select | NP_149017.2:p.Leu405= | |
| NM_001252678.2:c.699C>G | NP_001239607.1:p.Leu233= | |
| NM_001320665.2:c.1146C>G | NP_001307594.1:p.Leu382= | |
| NR_045565.2:n.1294C>G | ||
| NR_045566.2:n.1549C>G |