gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00000763 (NFE)
Exomes Max Group AF
0.0000081 (NFE)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.80214206C>T , CM000679.2:g.80214206C>T | GRCh38 |
| NC_000017.10:g.78188005C>T , CM000679.1:g.78188005C>T | GRCh37 |
| NC_000017.9:g.75802600C>T | NCBI36 |
| NG_008229.1:g.11195G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000703570.1:n.2845-1660C>T (CARD14) | ||
| ENST00000326317.11:c.629G>A (SGSH) MANE Select | ENSP00000314606.6:p.Trp210Ter | |
| ENST00000326317.10:c.629G>A (SGSH) | ENSP00000314606.6:p.Trp210Ter | |
| ENST00000570923.1:c.664G>A (SGSH) | ENSP00000458200.1:p.Gly222Arg | |
| ENST00000571051.5:n.498G>A (SGSH) | ||
| ENST00000572208.5:n.496G>A (SGSH) | ||
| ENST00000572257.5:c.231G>A (SGSH) | ||
| ENST00000573150.5:c.523G>A (SGSH) | ENSP00000459280.1:p.Gly175Arg | |
| ENST00000574505.5:c.488G>A (SGSH) | ||
| ENST00000575282.5:n.638G>A (SGSH) | ||
| ENST00000576941.5:c.*45G>A (SGSH) | ENSP00000461160.1:n.*45G>A | |
| NM_000199.3:c.629G>A (SGSH) | NP_000190.1:p.Trp210Ter | |
| XM_005257582.2:c.629G>A (SGSH) | XP_005257639.1:p.Trp210Ter | |
| XM_005257583.3:c.629G>A (SGSH) | XP_005257640.1:p.Trp210Ter | |
| XM_011525126.1:c.629G>A (SGSH) | XP_011523428.1:p.Trp210Ter | |
| XM_011525127.1:c.629G>A (SGSH) | XP_011523429.1:p.Trp210Ter | |
| XR_934532.1:n.649G>A (SGSH) | ||
| NM_000199.4:c.629G>A (SGSH) | NP_000190.1:p.Trp210Ter | |
| NM_001352921.1:c.629G>A (SGSH) | NP_001339850.1:p.Trp210Ter | |
| NM_001352922.1:c.629G>A (SGSH) | NP_001339851.1:p.Trp210Ter | |
| NR_148201.1:n.610G>A (SGSH) | ||
| XM_005257583.4:c.629G>A (SGSH) | XP_005257640.1:p.Trp210Ter | |
| XM_017024952.1:c.629G>A (SGSH) | XP_016880441.1:p.Trp210Ter | |
| XR_001752585.1:n.649G>A (SGSH) | ||
| XR_001752586.1:n.649G>A (SGSH) | ||
| XR_001752587.1:n.649G>A (SGSH) | ||
| XR_001752588.1:n.649G>A (SGSH) | ||
| XR_001752589.1:n.649G>A (SGSH) | ||
| XR_001752590.1:n.649G>A (SGSH) | ||
| XR_001752591.1:n.649G>A (SGSH) | ||
| XR_001752592.1:n.649G>A (SGSH) | ||
| XR_002958057.1:n.649G>A (SGSH) | ||
| XR_934532.2:n.649G>A (SGSH) | ||
| NM_000199.5:c.629G>A (SGSH) MANE Select | NP_000190.1:p.Trp210Ter | |
| NM_001352921.2:c.629G>A (SGSH) | NP_001339850.1:p.Trp210Ter | |
| NM_001352922.2:c.629G>A (SGSH) | NP_001339851.1:p.Trp210Ter | |
| NR_148201.2:n.543G>A (SGSH) | ||
| NM_001352921.3:c.629G>A (SGSH) | NP_001339850.1:p.Trp210Ter |