Linked Data
ClinVar Variation Id:
1572590
ClinVar RCV Id:
RCV002219873
dbSNP Id:
rs763317989
ExAC:
4:647751 C / T
gnomAD v2:
4-647751-C-T
gnomAD v4:
4-653962-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.653962C>T , CM000666.2:g.653962C>T | GRCh38 |
| NC_000004.11:g.647751C>T , CM000666.1:g.647751C>T | GRCh37 |
| NC_000004.10:g.637751C>T | NCBI36 |
| NG_009839.1:g.33389C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000496514.6:c.822C>T (PDE6B) MANE Select | ENSP00000420295.1:p.Ser274= | |
| ENST00000255622.10:c.822C>T (PDE6B) | ENSP00000255622.6:p.Ser274= | |
| ENST00000429163.6:c.-16C>T (PDE6B) | ENSP00000406334.2:n.-16C>T | |
| ENST00000465426.5:c.-16C>T (PDE6B) | ENSP00000418454.1:n.-16C>T | |
| ENST00000467152.1:n.220C>T (PDE6B) | ||
| ENST00000474251.5:n.273C>T (PDE6B) | ||
| ENST00000476034.5:n.392C>T (PDE6B) | ||
| ENST00000487902.5:c.-16C>T (PDE6B) | ENSP00000418256.1:n.-16C>T | |
| ENST00000488061.5:c.-16C>T (PDE6B) | ENSP00000420228.1:n.-16C>T | |
| ENST00000496514.5:c.822C>T (PDE6B) | ENSP00000420295.1:p.Ser274= | |
| NM_000283.3:c.822C>T (PDE6B) | NP_000274.2:p.Ser274= | |
| NM_001145291.1:c.822C>T (PDE6B) | NP_001138763.1:p.Ser274= | |
| NM_001145292.1:c.-16C>T (PDE6B) | NP_001138764.1:n.-16C>T | |
| XM_011513473.1:c.1041C>T (PDE6B) | XP_011511775.1:p.Ser347= | |
| XM_011513474.1:c.1041C>T (PDE6B) | XP_011511776.1:p.Ser347= | |
| XM_011513475.1:c.822C>T (PDE6B) | XP_011511777.1:p.Ser274= | |
| XM_011513476.1:c.1041C>T (PDE6B) | XP_011511778.1:p.Ser347= | |
| XM_011513477.1:c.-576C>T (PDE6B) | XP_011511779.1:n.-576C>T | |
| XM_011513478.1:c.-919C>T (PDE6B) | XP_011511780.1:n.-919C>T | |
| XR_246615.2:n.1024G>A (PDE6B-AS1) | ||
| XR_925030.1:n.875G>A (PDE6B-AS1) | ||
| NM_001350154.1:c.-16C>T (PDE6B) | NP_001337083.1:n.-16C>T | |
| NM_001350155.1:c.-219C>T (PDE6B) | NP_001337084.1:n.-219C>T | |
| XM_011513473.3:c.1041C>T (PDE6B) | XP_011511775.1:p.Ser347= | |
| XM_011513474.3:c.1041C>T (PDE6B) | XP_011511776.1:p.Ser347= | |
| XM_011513475.2:c.822C>T (PDE6B) | XP_011511777.1:p.Ser274= | |
| XM_011513476.3:c.1041C>T (PDE6B) | XP_011511778.1:p.Ser347= | |
| XM_011513478.2:c.-919C>T (PDE6B) | XP_011511780.1:n.-919C>T | |
| XM_017008284.1:c.-16C>T (PDE6B) | XP_016863773.1:n.-16C>T | |
| XM_017008285.1:c.-16C>T (PDE6B) | XP_016863774.1:n.-16C>T | |
| XM_017008286.1:c.-16C>T (PDE6B) | XP_016863775.1:n.-16C>T | |
| XR_001741541.1:n.1117G>A (PDE6B-AS1) | ||
| XR_246615.3:n.1266G>A (PDE6B-AS1) | ||
| NM_001350154.2:c.-16C>T (PDE6B) | NP_001337083.1:n.-16C>T | |
| NM_001350155.2:c.-219C>T (PDE6B) | NP_001337084.1:n.-219C>T | |
| NM_000283.4:c.822C>T (PDE6B) MANE Select | NP_000274.3:p.Ser274= | |
| NM_001145291.2:c.822C>T (PDE6B) | NP_001138763.2:p.Ser274= | |
| NM_001145292.2:c.-16C>T (PDE6B) | NP_001138764.2:n.-16C>T | |
| NM_001350154.3:c.-16C>T (PDE6B) | NP_001337083.1:n.-16C>T | |
| NM_001350155.3:c.-219C>T (PDE6B) | NP_001337084.1:n.-219C>T | |
| NM_001379246.1:c.-16C>T (PDE6B) | NP_001366175.1:n.-16C>T | |
| NM_001379247.1:c.-16C>T (PDE6B) | NP_001366176.1:n.-16C>T |