Linked Data
ClinVar Variation Id:
2196292
ClinVar RCV Id:
RCV002633556
dbSNP Id:
rs2041612831
gnomAD v4:
17-80210753-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.80210753T>C , CM000679.2:g.80210753T>C | GRCh38 |
| NC_000017.10:g.78184552T>C , CM000679.1:g.78184552T>C | GRCh37 |
| NC_000017.9:g.75799147T>C | NCBI36 |
| NG_008229.1:g.14648A>G | |
| NG_032778.1:g.45762T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000703570.1:n.2844+1495T>C (CARD14) | ||
| ENST00000326317.11:c.1208A>G (SGSH) MANE Select | ENSP00000314606.6:p.Tyr403Cys | |
| ENST00000326317.10:c.1208A>G (SGSH) | ENSP00000314606.6:p.Tyr403Cys | |
| ENST00000572257.5:c.551+1318A>G (SGSH) | ||
| ENST00000573150.5:c.*418A>G (SGSH) | ENSP00000459280.1:n.*418A>G | |
| ENST00000575282.5:n.4091A>G (SGSH) | ||
| ENST00000576856.1:c.462A>G (SGSH) | ENSP00000460720.1:n.462A>G | |
| NM_000199.3:c.1208A>G (SGSH) | NP_000190.1:p.Tyr403Cys | |
| XM_005257583.3:c.949+1318A>G (SGSH) | XP_005257640.1:n.949+1318A>G | |
| NM_000199.4:c.1208A>G (SGSH) | NP_000190.1:p.Tyr403Cys | |
| NM_001352921.1:c.*295A>G (SGSH) | NP_001339850.1:n.*295A>G | |
| NM_001352922.1:c.*258A>G (SGSH) | NP_001339851.1:n.*258A>G | |
| NR_148201.1:n.1189A>G (SGSH) | ||
| XM_005257583.4:c.949+1318A>G (SGSH) | XP_005257640.1:n.949+1318A>G | |
| XM_017024952.1:c.*1112A>G (SGSH) | XP_016880441.1:n.*1112A>G | |
| XR_001752585.1:n.1228A>G (SGSH) | ||
| XR_001752586.1:n.969+1318A>G (SGSH) | ||
| XR_001752587.1:n.969+1318A>G (SGSH) | ||
| XR_001752588.1:n.969+1318A>G (SGSH) | ||
| XR_001752589.1:n.969+1318A>G (SGSH) | ||
| XR_001752590.1:n.969+1318A>G (SGSH) | ||
| XR_001752591.1:n.969+1318A>G (SGSH) | ||
| XR_001752592.1:n.969+1318A>G (SGSH) | ||
| XR_002958057.1:n.1024+1116A>G (SGSH) | ||
| NM_000199.5:c.1208A>G (SGSH) MANE Select | NP_000190.1:p.Tyr403Cys | |
| NM_001352921.2:c.*295A>G (SGSH) | NP_001339850.1:n.*295A>G | |
| NM_001352922.2:c.*258A>G (SGSH) | NP_001339851.1:n.*258A>G | |
| NR_148201.2:n.1122A>G (SGSH) | ||
| NM_001352921.3:c.*295A>G (SGSH) | NP_001339850.1:n.*295A>G |