Linked Data
ClinVar Variation Id:
197654
dbSNP Id:
rs146646008
ExAC:
4:647921 G / A
gnomAD v2:
4-647921-G-A
gnomAD v3:
4-654132-G-A
gnomAD v4:
4-654132-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.654132G>A , CM000666.2:g.654132G>A | GRCh38 |
| NC_000004.11:g.647921G>A , CM000666.1:g.647921G>A | GRCh37 |
| NC_000004.10:g.637921G>A | NCBI36 |
| NG_009839.1:g.33559G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000496514.6:c.905G>A (PDE6B) MANE Select | ENSP00000420295.1:p.Gly302Asp | |
| ENST00000255622.10:c.905G>A (PDE6B) | ENSP00000255622.6:p.Gly302Asp | |
| ENST00000429163.6:c.68G>A (PDE6B) | ENSP00000406334.2:p.Gly23Asp | |
| ENST00000465426.5:c.68G>A (PDE6B) | ENSP00000418454.1:p.Gly23Asp | |
| ENST00000467152.1:n.303G>A (PDE6B) | ||
| ENST00000474251.5:n.356G>A (PDE6B) | ||
| ENST00000476034.5:n.475G>A (PDE6B) | ||
| ENST00000487902.5:c.68G>A (PDE6B) | ENSP00000418256.1:p.Gly23Asp | |
| ENST00000496514.5:c.905G>A (PDE6B) | ENSP00000420295.1:p.Gly302Asp | |
| NM_000283.3:c.905G>A (PDE6B) | NP_000274.2:p.Gly302Asp | |
| NM_001145291.1:c.905G>A (PDE6B) | NP_001138763.1:p.Gly302Asp | |
| NM_001145292.1:c.68G>A (PDE6B) | NP_001138764.1:p.Gly23Asp | |
| XM_011513473.1:c.1124G>A (PDE6B) | XP_011511775.1:p.Gly375Asp | |
| XM_011513474.1:c.1124G>A (PDE6B) | XP_011511776.1:p.Gly375Asp | |
| XM_011513475.1:c.905G>A (PDE6B) | XP_011511777.1:p.Gly302Asp | |
| XM_011513476.1:c.1124G>A (PDE6B) | XP_011511778.1:p.Gly375Asp | |
| XM_011513477.1:c.-493G>A (PDE6B) | XP_011511779.1:n.-493G>A | |
| XM_011513478.1:c.-836G>A (PDE6B) | XP_011511780.1:n.-836G>A | |
| XR_246615.2:n.947C>T (PDE6B-AS1) | ||
| XR_925030.1:n.866-161C>T (PDE6B-AS1) | ||
| NM_001350154.1:c.68G>A (PDE6B) | NP_001337083.1:p.Gly23Asp | |
| NM_001350155.1:c.-136G>A (PDE6B) | NP_001337084.1:n.-136G>A | |
| XM_011513473.3:c.1124G>A (PDE6B) | XP_011511775.1:p.Gly375Asp | |
| XM_011513474.3:c.1124G>A (PDE6B) | XP_011511776.1:p.Gly375Asp | |
| XM_011513475.2:c.905G>A (PDE6B) | XP_011511777.1:p.Gly302Asp | |
| XM_011513476.3:c.1124G>A (PDE6B) | XP_011511778.1:p.Gly375Asp | |
| XM_011513478.2:c.-836G>A (PDE6B) | XP_011511780.1:n.-836G>A | |
| XM_017008284.1:c.68G>A (PDE6B) | XP_016863773.1:p.Gly23Asp | |
| XM_017008285.1:c.68G>A (PDE6B) | XP_016863774.1:p.Gly23Asp | |
| XM_017008286.1:c.68G>A (PDE6B) | XP_016863775.1:p.Gly23Asp | |
| XR_001741541.1:n.1108-161C>T (PDE6B-AS1) | ||
| XR_246615.3:n.1189C>T (PDE6B-AS1) | ||
| NM_001350154.2:c.68G>A (PDE6B) | NP_001337083.1:p.Gly23Asp | |
| NM_001350155.2:c.-136G>A (PDE6B) | NP_001337084.1:n.-136G>A | |
| NM_000283.4:c.905G>A (PDE6B) MANE Select | NP_000274.3:p.Gly302Asp | |
| NM_001145291.2:c.905G>A (PDE6B) | NP_001138763.2:p.Gly302Asp | |
| NM_001145292.2:c.68G>A (PDE6B) | NP_001138764.2:p.Gly23Asp | |
| NM_001350154.3:c.68G>A (PDE6B) | NP_001337083.1:p.Gly23Asp | |
| NM_001350155.3:c.-136G>A (PDE6B) | NP_001337084.1:n.-136G>A | |
| NM_001379246.1:c.68G>A (PDE6B) | NP_001366175.1:p.Gly23Asp | |
| NM_001379247.1:c.68G>A (PDE6B) | NP_001366176.1:p.Gly23Asp |