Linked Data
ClinVar Variation Id:
5109
ClinVar RCV Id:
RCV002512806
dbSNP Id:
rs104894641
ExAC:
17:78184462 C / T
gnomAD v2:
17-78184462-C-T
gnomAD v3:
17-80210663-C-T
gnomAD v4:
17-80210663-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.80210663C>T , CM000679.2:g.80210663C>T | GRCh38 |
| NC_000017.10:g.78184462C>T , CM000679.1:g.78184462C>T | GRCh37 |
| NC_000017.9:g.75799057C>T | NCBI36 |
| NG_008229.1:g.14738G>A | |
| NG_032778.1:g.45672C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000703570.1:n.2844+1405C>T (CARD14) | ||
| ENST00000326317.11:c.1298G>A (SGSH) MANE Select | ENSP00000314606.6:p.Arg433Gln | |
| ENST00000326317.10:c.1298G>A (SGSH) | ENSP00000314606.6:p.Arg433Gln | |
| ENST00000572257.5:c.551+1408G>A (SGSH) | ||
| ENST00000573150.5:c.*508G>A (SGSH) | ENSP00000459280.1:n.*508G>A | |
| ENST00000575282.5:n.4181G>A (SGSH) | ||
| ENST00000576856.1:c.552G>A (SGSH) | ENSP00000460720.1:n.552G>A | |
| NM_000199.3:c.1298G>A (SGSH) | NP_000190.1:p.Arg433Gln | |
| XM_005257583.3:c.949+1408G>A (SGSH) | XP_005257640.1:n.949+1408G>A | |
| NM_000199.4:c.1298G>A (SGSH) | NP_000190.1:p.Arg433Gln | |
| NM_001352921.1:c.*385G>A (SGSH) | NP_001339850.1:n.*385G>A | |
| NM_001352922.1:c.*348G>A (SGSH) | NP_001339851.1:n.*348G>A | |
| NR_148201.1:n.1279G>A (SGSH) | ||
| XM_005257583.4:c.949+1408G>A (SGSH) | XP_005257640.1:n.949+1408G>A | |
| XM_017024952.1:c.*1202G>A (SGSH) | XP_016880441.1:n.*1202G>A | |
| XR_001752585.1:n.1318G>A (SGSH) | ||
| XR_001752586.1:n.969+1408G>A (SGSH) | ||
| XR_001752587.1:n.969+1408G>A (SGSH) | ||
| XR_001752588.1:n.969+1408G>A (SGSH) | ||
| XR_001752589.1:n.969+1408G>A (SGSH) | ||
| XR_001752590.1:n.969+1408G>A (SGSH) | ||
| XR_001752591.1:n.969+1408G>A (SGSH) | ||
| XR_001752592.1:n.969+1408G>A (SGSH) | ||
| XR_002958057.1:n.1024+1206G>A (SGSH) | ||
| NM_000199.5:c.1298G>A (SGSH) MANE Select | NP_000190.1:p.Arg433Gln | |
| NM_001352921.2:c.*385G>A (SGSH) | NP_001339850.1:n.*385G>A | |
| NM_001352922.2:c.*348G>A (SGSH) | NP_001339851.1:n.*348G>A | |
| NR_148201.2:n.1212G>A (SGSH) | ||
| NM_001352921.3:c.*385G>A (SGSH) | NP_001339850.1:n.*385G>A |