Linked Data
ClinVar Variation Id:
1133292
ClinVar RCV Id:
RCV001467814
dbSNP Id:
rs1458442935
gnomAD v2:
17-78184302-G-A
gnomAD v3:
17-80210503-G-A
gnomAD v4:
17-80210503-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.80210503G>A , CM000679.2:g.80210503G>A | GRCh38 |
| NC_000017.10:g.78184302G>A , CM000679.1:g.78184302G>A | GRCh37 |
| NC_000017.9:g.75798897G>A | NCBI36 |
| NG_008229.1:g.14898C>T | |
| NG_032778.1:g.45512G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000703570.1:n.2844+1245G>A (CARD14) | ||
| ENST00000326317.11:c.1458C>T (SGSH) MANE Select | ENSP00000314606.6:p.Val486= | |
| ENST00000326317.10:c.1458C>T (SGSH) | ENSP00000314606.6:p.Val486= | |
| ENST00000572257.5:c.551+1568C>T (SGSH) | ||
| ENST00000573150.5:c.*668C>T (SGSH) | ENSP00000459280.1:n.*668C>T | |
| ENST00000575282.5:n.4341C>T (SGSH) | ||
| ENST00000576856.1:c.712C>T (SGSH) | ENSP00000460720.1:n.712C>T | |
| NM_000199.3:c.1458C>T (SGSH) | NP_000190.1:p.Val486= | |
| XM_005257583.3:c.949+1568C>T (SGSH) | XP_005257640.1:n.949+1568C>T | |
| NM_000199.4:c.1458C>T (SGSH) | NP_000190.1:p.Val486= | |
| NM_001352921.1:c.*545C>T (SGSH) | NP_001339850.1:n.*545C>T | |
| NM_001352922.1:c.*508C>T (SGSH) | NP_001339851.1:n.*508C>T | |
| NR_148201.1:n.1439C>T (SGSH) | ||
| XM_005257583.4:c.949+1568C>T (SGSH) | XP_005257640.1:n.949+1568C>T | |
| XM_017024952.1:c.*1362C>T (SGSH) | XP_016880441.1:n.*1362C>T | |
| XR_001752585.1:n.1478C>T (SGSH) | ||
| XR_001752586.1:n.969+1568C>T (SGSH) | ||
| XR_001752587.1:n.969+1568C>T (SGSH) | ||
| XR_001752588.1:n.969+1568C>T (SGSH) | ||
| XR_001752589.1:n.969+1568C>T (SGSH) | ||
| XR_001752590.1:n.969+1568C>T (SGSH) | ||
| XR_001752591.1:n.969+1568C>T (SGSH) | ||
| XR_001752592.1:n.969+1568C>T (SGSH) | ||
| XR_002958057.1:n.1024+1366C>T (SGSH) | ||
| NM_000199.5:c.1458C>T (SGSH) MANE Select | NP_000190.1:p.Val486= | |
| NM_001352921.2:c.*545C>T (SGSH) | NP_001339850.1:n.*545C>T | |
| NM_001352922.2:c.*508C>T (SGSH) | NP_001339851.1:n.*508C>T | |
| NR_148201.2:n.1372C>T (SGSH) | ||
| NM_001352921.3:c.*545C>T (SGSH) | NP_001339850.1:n.*545C>T |