Linked Data
ClinVar Variation Id:
349366
dbSNP Id:
rs145756948
ExAC:
4:647942 G / A
gnomAD v2:
4-647942-G-A
gnomAD v3:
4-654153-G-A
gnomAD v4:
4-654153-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.654153G>A , CM000666.2:g.654153G>A | GRCh38 |
| NC_000004.11:g.647942G>A , CM000666.1:g.647942G>A | GRCh37 |
| NC_000004.10:g.637942G>A | NCBI36 |
| NG_009839.1:g.33580G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000496514.6:c.926G>A (PDE6B) MANE Select | ENSP00000420295.1:p.Arg309Gln | |
| ENST00000255622.10:c.926G>A (PDE6B) | ENSP00000255622.6:p.Arg309Gln | |
| ENST00000429163.6:c.89G>A (PDE6B) | ENSP00000406334.2:p.Arg30Gln | |
| ENST00000465426.5:c.89G>A (PDE6B) | ENSP00000418454.1:p.Arg30Gln | |
| ENST00000467152.1:n.324G>A (PDE6B) | ||
| ENST00000474251.5:n.377G>A (PDE6B) | ||
| ENST00000476034.5:n.496G>A (PDE6B) | ||
| ENST00000487902.5:c.89G>A (PDE6B) | ENSP00000418256.1:p.Arg30Gln | |
| ENST00000496514.5:c.926G>A (PDE6B) | ENSP00000420295.1:p.Arg309Gln | |
| NM_000283.3:c.926G>A (PDE6B) | NP_000274.2:p.Arg309Gln | |
| NM_001145291.1:c.926G>A (PDE6B) | NP_001138763.1:p.Arg309Gln | |
| NM_001145292.1:c.89G>A (PDE6B) | NP_001138764.1:p.Arg30Gln | |
| XM_011513473.1:c.1145G>A (PDE6B) | XP_011511775.1:p.Arg382Gln | |
| XM_011513474.1:c.1145G>A (PDE6B) | XP_011511776.1:p.Arg382Gln | |
| XM_011513475.1:c.926G>A (PDE6B) | XP_011511777.1:p.Arg309Gln | |
| XM_011513476.1:c.1145G>A (PDE6B) | XP_011511778.1:p.Arg382Gln | |
| XM_011513477.1:c.-472G>A (PDE6B) | XP_011511779.1:n.-472G>A | |
| XM_011513478.1:c.-815G>A (PDE6B) | XP_011511780.1:n.-815G>A | |
| XR_246615.2:n.926C>T (PDE6B-AS1) | ||
| XR_925030.1:n.866-182C>T (PDE6B-AS1) | ||
| NM_001350154.1:c.89G>A (PDE6B) | NP_001337083.1:p.Arg30Gln | |
| NM_001350155.1:c.-115G>A (PDE6B) | NP_001337084.1:n.-115G>A | |
| XM_011513473.3:c.1145G>A (PDE6B) | XP_011511775.1:p.Arg382Gln | |
| XM_011513474.3:c.1145G>A (PDE6B) | XP_011511776.1:p.Arg382Gln | |
| XM_011513475.2:c.926G>A (PDE6B) | XP_011511777.1:p.Arg309Gln | |
| XM_011513476.3:c.1145G>A (PDE6B) | XP_011511778.1:p.Arg382Gln | |
| XM_011513478.2:c.-815G>A (PDE6B) | XP_011511780.1:n.-815G>A | |
| XM_017008284.1:c.89G>A (PDE6B) | XP_016863773.1:p.Arg30Gln | |
| XM_017008285.1:c.89G>A (PDE6B) | XP_016863774.1:p.Arg30Gln | |
| XM_017008286.1:c.89G>A (PDE6B) | XP_016863775.1:p.Arg30Gln | |
| XR_001741541.1:n.1108-182C>T (PDE6B-AS1) | ||
| XR_246615.3:n.1168C>T (PDE6B-AS1) | ||
| NM_001350154.2:c.89G>A (PDE6B) | NP_001337083.1:p.Arg30Gln | |
| NM_001350155.2:c.-115G>A (PDE6B) | NP_001337084.1:n.-115G>A | |
| NM_000283.4:c.926G>A (PDE6B) MANE Select | NP_000274.3:p.Arg309Gln | |
| NM_001145291.2:c.926G>A (PDE6B) | NP_001138763.2:p.Arg309Gln | |
| NM_001145292.2:c.89G>A (PDE6B) | NP_001138764.2:p.Arg30Gln | |
| NM_001350154.3:c.89G>A (PDE6B) | NP_001337083.1:p.Arg30Gln | |
| NM_001350155.3:c.-115G>A (PDE6B) | NP_001337084.1:n.-115G>A | |
| NM_001379246.1:c.89G>A (PDE6B) | NP_001366175.1:p.Arg30Gln | |
| NM_001379247.1:c.89G>A (PDE6B) | NP_001366176.1:p.Arg30Gln |