Linked Data
ClinVar Variation Id:
5114
dbSNP Id:
rs104894639
ExAC:
17:78184421 C / T
gnomAD v2:
17-78184421-C-T
gnomAD v3:
17-80210622-C-T
gnomAD v4:
17-80210622-C-T
COSMIC:
COSM1225525
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.80210622C>T , CM000679.2:g.80210622C>T | GRCh38 |
| NC_000017.10:g.78184421C>T , CM000679.1:g.78184421C>T | GRCh37 |
| NC_000017.9:g.75799016C>T | NCBI36 |
| NG_008229.1:g.14779G>A | |
| NG_032778.1:g.45631C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000703570.1:n.2844+1364C>T (CARD14) | ||
| ENST00000326317.11:c.1339G>A (SGSH) MANE Select | ENSP00000314606.6:p.Glu447Lys | |
| ENST00000326317.10:c.1339G>A (SGSH) | ENSP00000314606.6:p.Glu447Lys | |
| ENST00000572257.5:c.551+1449G>A (SGSH) | ||
| ENST00000573150.5:c.*549G>A (SGSH) | ENSP00000459280.1:n.*549G>A | |
| ENST00000575282.5:n.4222G>A (SGSH) | ||
| ENST00000576856.1:c.593G>A (SGSH) | ENSP00000460720.1:n.593G>A | |
| NM_000199.3:c.1339G>A (SGSH) | NP_000190.1:p.Glu447Lys | |
| XM_005257583.3:c.949+1449G>A (SGSH) | XP_005257640.1:n.949+1449G>A | |
| NM_000199.4:c.1339G>A (SGSH) | NP_000190.1:p.Glu447Lys | |
| NM_001352921.1:c.*426G>A (SGSH) | NP_001339850.1:n.*426G>A | |
| NM_001352922.1:c.*389G>A (SGSH) | NP_001339851.1:n.*389G>A | |
| NR_148201.1:n.1320G>A (SGSH) | ||
| XM_005257583.4:c.949+1449G>A (SGSH) | XP_005257640.1:n.949+1449G>A | |
| XM_017024952.1:c.*1243G>A (SGSH) | XP_016880441.1:n.*1243G>A | |
| XR_001752585.1:n.1359G>A (SGSH) | ||
| XR_001752586.1:n.969+1449G>A (SGSH) | ||
| XR_001752587.1:n.969+1449G>A (SGSH) | ||
| XR_001752588.1:n.969+1449G>A (SGSH) | ||
| XR_001752589.1:n.969+1449G>A (SGSH) | ||
| XR_001752590.1:n.969+1449G>A (SGSH) | ||
| XR_001752591.1:n.969+1449G>A (SGSH) | ||
| XR_001752592.1:n.969+1449G>A (SGSH) | ||
| XR_002958057.1:n.1024+1247G>A (SGSH) | ||
| NM_000199.5:c.1339G>A (SGSH) MANE Select | NP_000190.1:p.Glu447Lys | |
| NM_001352921.2:c.*426G>A (SGSH) | NP_001339850.1:n.*426G>A | |
| NM_001352922.2:c.*389G>A (SGSH) | NP_001339851.1:n.*389G>A | |
| NR_148201.2:n.1253G>A (SGSH) | ||
| NM_001352921.3:c.*426G>A (SGSH) | NP_001339850.1:n.*426G>A |