Linked Data
ClinVar Variation Id:
1130643
ClinVar RCV Id:
RCV001464220
dbSNP Id:
rs145605739
ExAC:
4:647739 C / T
gnomAD v2:
4-647739-C-T
gnomAD v3:
4-653950-C-T
gnomAD v4:
4-653950-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.653950C>T , CM000666.2:g.653950C>T | GRCh38 |
| NC_000004.11:g.647739C>T , CM000666.1:g.647739C>T | GRCh37 |
| NC_000004.10:g.637739C>T | NCBI36 |
| NG_009839.1:g.33377C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000496514.6:c.810C>T (PDE6B) MANE Select | ENSP00000420295.1:p.Cys270= | |
| ENST00000255622.10:c.810C>T (PDE6B) | ENSP00000255622.6:p.Cys270= | |
| ENST00000429163.6:c.-28C>T (PDE6B) | ENSP00000406334.2:n.-28C>T | |
| ENST00000465426.5:c.-28C>T (PDE6B) | ENSP00000418454.1:n.-28C>T | |
| ENST00000467152.1:n.208C>T (PDE6B) | ||
| ENST00000474251.5:n.261C>T (PDE6B) | ||
| ENST00000476034.5:n.380C>T (PDE6B) | ||
| ENST00000487902.5:c.-28C>T (PDE6B) | ENSP00000418256.1:n.-28C>T | |
| ENST00000488061.5:c.-28C>T (PDE6B) | ENSP00000420228.1:n.-28C>T | |
| ENST00000496514.5:c.810C>T (PDE6B) | ENSP00000420295.1:p.Cys270= | |
| NM_000283.3:c.810C>T (PDE6B) | NP_000274.2:p.Cys270= | |
| NM_001145291.1:c.810C>T (PDE6B) | NP_001138763.1:p.Cys270= | |
| NM_001145292.1:c.-28C>T (PDE6B) | NP_001138764.1:n.-28C>T | |
| XM_011513473.1:c.1029C>T (PDE6B) | XP_011511775.1:p.Cys343= | |
| XM_011513474.1:c.1029C>T (PDE6B) | XP_011511776.1:p.Cys343= | |
| XM_011513475.1:c.810C>T (PDE6B) | XP_011511777.1:p.Cys270= | |
| XM_011513476.1:c.1029C>T (PDE6B) | XP_011511778.1:p.Cys343= | |
| XM_011513477.1:c.-588C>T (PDE6B) | XP_011511779.1:n.-588C>T | |
| XM_011513478.1:c.-931C>T (PDE6B) | XP_011511780.1:n.-931C>T | |
| XR_246615.2:n.1036G>A (PDE6B-AS1) | ||
| XR_925030.1:n.887G>A (PDE6B-AS1) | ||
| NM_001350154.1:c.-28C>T (PDE6B) | NP_001337083.1:n.-28C>T | |
| NM_001350155.1:c.-231C>T (PDE6B) | NP_001337084.1:n.-231C>T | |
| XM_011513473.3:c.1029C>T (PDE6B) | XP_011511775.1:p.Cys343= | |
| XM_011513474.3:c.1029C>T (PDE6B) | XP_011511776.1:p.Cys343= | |
| XM_011513475.2:c.810C>T (PDE6B) | XP_011511777.1:p.Cys270= | |
| XM_011513476.3:c.1029C>T (PDE6B) | XP_011511778.1:p.Cys343= | |
| XM_011513478.2:c.-931C>T (PDE6B) | XP_011511780.1:n.-931C>T | |
| XM_017008284.1:c.-28C>T (PDE6B) | XP_016863773.1:n.-28C>T | |
| XM_017008285.1:c.-28C>T (PDE6B) | XP_016863774.1:n.-28C>T | |
| XM_017008286.1:c.-28C>T (PDE6B) | XP_016863775.1:n.-28C>T | |
| XR_001741541.1:n.1129G>A (PDE6B-AS1) | ||
| XR_246615.3:n.1278G>A (PDE6B-AS1) | ||
| NM_001350154.2:c.-28C>T (PDE6B) | NP_001337083.1:n.-28C>T | |
| NM_001350155.2:c.-231C>T (PDE6B) | NP_001337084.1:n.-231C>T | |
| NM_000283.4:c.810C>T (PDE6B) MANE Select | NP_000274.3:p.Cys270= | |
| NM_001145291.2:c.810C>T (PDE6B) | NP_001138763.2:p.Cys270= | |
| NM_001145292.2:c.-28C>T (PDE6B) | NP_001138764.2:n.-28C>T | |
| NM_001350154.3:c.-28C>T (PDE6B) | NP_001337083.1:n.-28C>T | |
| NM_001350155.3:c.-231C>T (PDE6B) | NP_001337084.1:n.-231C>T | |
| NM_001379246.1:c.-28C>T (PDE6B) | NP_001366175.1:n.-28C>T | |
| NM_001379247.1:c.-28C>T (PDE6B) | NP_001366176.1:n.-28C>T |