Linked Data
ClinVar Variation Id:
5110
ClinVar RCV Id:
RCV000005417
dbSNP Id:
rs104894642
ExAC:
17:78188537 G / A
gnomAD v2:
17-78188537-G-A
gnomAD v3:
17-80214738-G-A
gnomAD v4:
17-80214738-G-A
PubMed:
PMID:12702166
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.80214738G>A , CM000679.2:g.80214738G>A | GRCh38 |
| NC_000017.10:g.78188537G>A , CM000679.1:g.78188537G>A | GRCh37 |
| NC_000017.9:g.75803132G>A | NCBI36 |
| NG_008229.1:g.10663C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000703570.1:n.2845-1128G>A (CARD14) | ||
| ENST00000326317.11:c.383C>T (SGSH) MANE Select | ENSP00000314606.6:p.Pro128Leu | |
| ENST00000326317.10:c.383C>T (SGSH) | ENSP00000314606.6:p.Pro128Leu | |
| ENST00000570427.1:c.401C>T (SGSH) | ENSP00000459765.1:p.Pro134Leu | |
| ENST00000570923.1:c.418C>T (SGSH) | ENSP00000458200.1:p.Arg140Trp | |
| ENST00000571051.5:n.375+295C>T (SGSH) | ||
| ENST00000571675.5:n.403C>T (SGSH) | ||
| ENST00000572208.5:n.373+295C>T (SGSH) | ||
| ENST00000573150.5:c.277C>T (SGSH) | ENSP00000459280.1:p.Arg93Trp | |
| ENST00000574505.5:c.301-59C>T (SGSH) | ||
| ENST00000575282.5:n.392C>T (SGSH) | ||
| ENST00000576707.5:c.122C>T (SGSH) | ENSP00000461128.1:p.Pro41Leu | |
| ENST00000576941.5:c.250-410C>T (SGSH) | ENSP00000461160.1:n.250-410C>T | |
| NM_000199.3:c.383C>T (SGSH) | NP_000190.1:p.Pro128Leu | |
| XM_005257582.2:c.383C>T (SGSH) | XP_005257639.1:p.Pro128Leu | |
| XM_005257583.3:c.383C>T (SGSH) | XP_005257640.1:p.Pro128Leu | |
| XM_011525126.1:c.383C>T (SGSH) | XP_011523428.1:p.Pro128Leu | |
| XM_011525127.1:c.383C>T (SGSH) | XP_011523429.1:p.Pro128Leu | |
| XR_934532.1:n.403C>T (SGSH) | ||
| NM_000199.4:c.383C>T (SGSH) | NP_000190.1:p.Pro128Leu | |
| NM_001352921.1:c.383C>T (SGSH) | NP_001339850.1:p.Pro128Leu | |
| NM_001352922.1:c.383C>T (SGSH) | NP_001339851.1:p.Pro128Leu | |
| NR_148201.1:n.364C>T (SGSH) | ||
| XM_005257583.4:c.383C>T (SGSH) | XP_005257640.1:p.Pro128Leu | |
| XM_017024952.1:c.383C>T (SGSH) | XP_016880441.1:p.Pro128Leu | |
| XR_001752585.1:n.403C>T (SGSH) | ||
| XR_001752586.1:n.403C>T (SGSH) | ||
| XR_001752587.1:n.403C>T (SGSH) | ||
| XR_001752588.1:n.403C>T (SGSH) | ||
| XR_001752589.1:n.403C>T (SGSH) | ||
| XR_001752590.1:n.403C>T (SGSH) | ||
| XR_001752591.1:n.403C>T (SGSH) | ||
| XR_001752592.1:n.403C>T (SGSH) | ||
| XR_002958057.1:n.403C>T (SGSH) | ||
| XR_934532.2:n.403C>T (SGSH) | ||
| NM_000199.5:c.383C>T (SGSH) MANE Select | NP_000190.1:p.Pro128Leu | |
| NM_001352921.2:c.383C>T (SGSH) | NP_001339850.1:p.Pro128Leu | |
| NM_001352922.2:c.383C>T (SGSH) | NP_001339851.1:p.Pro128Leu | |
| NR_148201.2:n.297C>T (SGSH) | ||
| NM_001352921.3:c.383C>T (SGSH) | NP_001339850.1:p.Pro128Leu |