COSMIC:
COSM4159133 (not active)
Revel Score:
ENST00000255622
0.133
ENST00000496514 (MANE Select)
0.133
ENST00000465426
0.133
ENST00000487902
0.133
ENST00000429163
0.133
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.99845168 (NFE)
Genomes Max Group AF
0.99370142 (NFE)
Exomes Max Group AF
0.9984028 (NFE)
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.654854G>A , CM000666.2:g.654854G>A | GRCh38 |
| NC_000004.11:g.648643G>A , CM000666.1:g.648643G>A | GRCh37 |
| NC_000004.10:g.638643G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000496514.6:c.958G>A (PDE6B) MANE Select | ENSP00000420295.1:p.Val320Ile | |
| ENST00000255622.10:c.958G>A (PDE6B) | ENSP00000255622.6:p.Val320Ile | |
| ENST00000429163.6:c.121G>A (PDE6B) | ENSP00000406334.2:p.Val41Ile | |
| ENST00000465426.5:c.121G>A (PDE6B) | ENSP00000418454.1:p.Val41Ile | |
| ENST00000487902.5:c.121G>A (PDE6B) | ENSP00000418256.1:p.Val41Ile | |
| ENST00000496514.5:c.958G>A (PDE6B) | ENSP00000420295.1:p.Val320Ile | |
| XM_011513473.1:c.1177G>A (PDE6B) | XP_011511775.1:p.Val393Ile | |
| XM_011513474.1:c.1177G>A (PDE6B) | XP_011511776.1:p.Val393Ile | |
| XM_011513475.1:c.958G>A (PDE6B) | XP_011511777.1:p.Val320Ile | |
| XM_011513476.1:c.1177G>A (PDE6B) | XP_011511778.1:p.Val393Ile | |
| XM_011513477.1:c.230G>A (PDE6B) | XP_011511779.1:p.Arg77His | |
| XM_011513478.1:c.-114G>A (PDE6B) | XP_011511780.1:n.-114G>A | |
| XR_246615.2:n.865+228C>T (PDE6B-AS1) | ||
| XR_925030.1:n.865+228C>T (PDE6B-AS1) | ||
| NM_001350154.1:c.121G>A (PDE6B) | NP_001337083.1:p.Val41Ile | |
| NM_001350155.1:c.-83G>A (PDE6B) | NP_001337084.1:n.-83G>A | |
| XM_011513473.3:c.1177G>A (PDE6B) | XP_011511775.1:p.Val393Ile | |
| XM_011513474.3:c.1177G>A (PDE6B) | XP_011511776.1:p.Val393Ile | |
| XM_011513475.2:c.958G>A (PDE6B) | XP_011511777.1:p.Val320Ile | |
| XM_011513476.3:c.1177G>A (PDE6B) | XP_011511778.1:p.Val393Ile | |
| XM_011513478.2:c.-114G>A (PDE6B) | XP_011511780.1:n.-114G>A | |
| XM_017008284.1:c.121G>A (PDE6B) | XP_016863773.1:p.Val41Ile | |
| XM_017008285.1:c.121G>A (PDE6B) | XP_016863774.1:p.Val41Ile | |
| XM_017008286.1:c.121G>A (PDE6B) | XP_016863775.1:p.Val41Ile | |
| XR_001741541.1:n.1107+228C>T (PDE6B-AS1) | ||
| XR_246615.3:n.1107+228C>T (PDE6B-AS1) | ||
| NM_001350154.2:c.121G>A (PDE6B) | NP_001337083.1:p.Val41Ile | |
| NM_001350155.2:c.-83G>A (PDE6B) | NP_001337084.1:n.-83G>A | |
| NM_000283.4:c.958G>A (PDE6B) MANE Select | NP_000274.3:p.Val320Ile | |
| NM_001145291.2:c.958G>A (PDE6B) | NP_001138763.2:p.Val320Ile | |
| NM_001145292.2:c.121G>A (PDE6B) | NP_001138764.2:p.Val41Ile | |
| NM_001350154.3:c.121G>A (PDE6B) | NP_001337083.1:p.Val41Ile | |
| NM_001350155.3:c.-83G>A (PDE6B) | NP_001337084.1:n.-83G>A | |
| NM_001379246.1:c.121G>A (PDE6B) | NP_001366175.1:p.Val41Ile | |
| NM_001379247.1:c.121G>A (PDE6B) | NP_001366176.1:p.Val41Ile |