Linked Data
ClinVar Variation Id:
325834
dbSNP Id:
rs202150579
ExAC:
17:78184684 G / A
gnomAD v2:
17-78184684-G-A
gnomAD v3:
17-80210885-G-A
gnomAD v4:
17-80210885-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.80210885G>A , CM000679.2:g.80210885G>A | GRCh38 |
| NC_000017.10:g.78184684G>A , CM000679.1:g.78184684G>A | GRCh37 |
| NC_000017.9:g.75799279G>A | NCBI36 |
| NG_008229.1:g.14516C>T | |
| NG_032778.1:g.45894G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000703570.1:n.2844+1627G>A (CARD14) | ||
| ENST00000326317.11:c.1076C>T (SGSH) MANE Select | ENSP00000314606.6:p.Ala359Val | |
| ENST00000326317.10:c.1076C>T (SGSH) | ENSP00000314606.6:p.Ala359Val | |
| ENST00000572257.5:c.551+1186C>T (SGSH) | ||
| ENST00000573150.5:c.*286C>T (SGSH) | ENSP00000459280.1:n.*286C>T | |
| ENST00000575282.5:n.3959C>T (SGSH) | ||
| ENST00000576856.1:c.330C>T (SGSH) | ENSP00000460720.1:n.330C>T | |
| NM_000199.3:c.1076C>T (SGSH) | NP_000190.1:p.Ala359Val | |
| XM_005257583.3:c.949+1186C>T (SGSH) | XP_005257640.1:n.949+1186C>T | |
| NM_000199.4:c.1076C>T (SGSH) | NP_000190.1:p.Ala359Val | |
| NM_001352921.1:c.*163C>T (SGSH) | NP_001339850.1:n.*163C>T | |
| NM_001352922.1:c.*126C>T (SGSH) | NP_001339851.1:n.*126C>T | |
| NR_148201.1:n.1057C>T (SGSH) | ||
| XM_005257583.4:c.949+1186C>T (SGSH) | XP_005257640.1:n.949+1186C>T | |
| XM_017024952.1:c.*980C>T (SGSH) | XP_016880441.1:n.*980C>T | |
| XR_001752585.1:n.1096C>T (SGSH) | ||
| XR_001752586.1:n.969+1186C>T (SGSH) | ||
| XR_001752587.1:n.969+1186C>T (SGSH) | ||
| XR_001752588.1:n.969+1186C>T (SGSH) | ||
| XR_001752589.1:n.969+1186C>T (SGSH) | ||
| XR_001752590.1:n.969+1186C>T (SGSH) | ||
| XR_001752591.1:n.969+1186C>T (SGSH) | ||
| XR_001752592.1:n.969+1186C>T (SGSH) | ||
| XR_002958057.1:n.1024+984C>T (SGSH) | ||
| NM_000199.5:c.1076C>T (SGSH) MANE Select | NP_000190.1:p.Ala359Val | |
| NM_001352921.2:c.*163C>T (SGSH) | NP_001339850.1:n.*163C>T | |
| NM_001352922.2:c.*126C>T (SGSH) | NP_001339851.1:n.*126C>T | |
| NR_148201.2:n.990C>T (SGSH) | ||
| NM_001352921.3:c.*163C>T (SGSH) | NP_001339850.1:n.*163C>T |