gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.01606116 (SAS)
Genomes Max Group AF
0.01513373 (SAS)
Exomes Max Group AF
0.01596263 (SAS)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.114402717G>C , CM000671.2:g.114402717G>C | GRCh38 |
| NC_000009.11:g.117164997G>C , CM000671.1:g.117164997G>C | GRCh37 |
| NC_000009.10:g.116204818G>C | NCBI36 |
| NG_016700.1:g.107740C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000699485.1:c.1105C>G | ENSP00000514396.1:n.1105C>G | |
| ENST00000362057.4:c.*37C>G MANE Select | ENSP00000354623.3:n.*37C>G | |
| ENST00000674036.8:c.1734C>G | ||
| ENST00000674048.1:n.2642C>G | ||
| ENST00000265134.10:c.*37C>G | ENSP00000265134.6:n.*37C>G | |
| ENST00000362057.3:c.*37C>G | ENSP00000354623.3:n.*37C>G | |
| ENST00000374059.7:c.*37C>G | ENSP00000363172.3:n.*37C>G | |
| NM_001083885.2:c.*37C>G | NP_001077354.2:n.*37C>G | |
| NM_001173425.1:c.*37C>G | NP_001166896.1:n.*37C>G | |
| NM_015404.3:c.*37C>G | NP_056219.3:n.*37C>G | |
| XM_005251897.3:c.*37C>G | XP_005251954.2:n.*37C>G | |
| XM_011518484.1:c.*37C>G | XP_011516786.1:n.*37C>G | |
| XM_011518485.1:c.*37C>G | XP_011516787.1:n.*37C>G | |
| XM_011518486.1:c.*37C>G | XP_011516788.1:n.*37C>G | |
| XM_011518487.1:c.*37C>G | XP_011516789.1:n.*37C>G | |
| XM_011518488.1:c.*37C>G | XP_011516790.1:n.*37C>G | |
| XM_011518495.1:c.*37C>G | XP_011516797.1:n.*37C>G | |
| NM_001346890.1:c.*37C>G | NP_001333819.1:n.*37C>G | |
| XM_011518486.2:c.*37C>G | XP_011516788.1:n.*37C>G | |
| XM_011518487.2:c.*37C>G | XP_011516789.1:n.*37C>G | |
| XM_011518488.2:c.*37C>G | XP_011516790.1:n.*37C>G | |
| NM_015404.4:c.*37C>G MANE Select | NP_056219.3:n.*37C>G | |
| NM_001173425.2:c.*37C>G | NP_001166896.1:n.*37C>G | |
| NM_001083885.3:c.*37C>G | NP_001077354.2:n.*37C>G |