Linked Data
ClinVar Variation Id:
349362
dbSNP Id:
rs780521818
ExAC:
4:647668 T / A
gnomAD v2:
4-647668-T-A
gnomAD v3:
4-653879-T-A
gnomAD v4:
4-653879-T-A
PubMed:
PMID:28041643
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.653879T>A , CM000666.2:g.653879T>A | GRCh38 |
| NC_000004.11:g.647668T>A , CM000666.1:g.647668T>A | GRCh37 |
| NC_000004.10:g.637668T>A | NCBI36 |
| NG_009839.1:g.33306T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000496514.6:c.739T>A (PDE6B) MANE Select | ENSP00000420295.1:p.Phe247Ile | |
| ENST00000255622.10:c.739T>A (PDE6B) | ENSP00000255622.6:p.Phe247Ile | |
| ENST00000429163.6:c.-99T>A (PDE6B) | ENSP00000406334.2:n.-99T>A | |
| ENST00000465426.5:c.-99T>A (PDE6B) | ENSP00000418454.1:n.-99T>A | |
| ENST00000467152.1:n.137T>A (PDE6B) | ||
| ENST00000474251.5:n.190T>A (PDE6B) | ||
| ENST00000476034.5:n.309T>A (PDE6B) | ||
| ENST00000487902.5:c.-99T>A (PDE6B) | ENSP00000418256.1:n.-99T>A | |
| ENST00000488061.5:c.-99T>A (PDE6B) | ENSP00000420228.1:n.-99T>A | |
| ENST00000496514.5:c.739T>A (PDE6B) | ENSP00000420295.1:p.Phe247Ile | |
| NM_000283.3:c.739T>A (PDE6B) | NP_000274.2:p.Phe247Ile | |
| NM_001145291.1:c.739T>A (PDE6B) | NP_001138763.1:p.Phe247Ile | |
| NM_001145292.1:c.-99T>A (PDE6B) | NP_001138764.1:n.-99T>A | |
| XM_011513473.1:c.958T>A (PDE6B) | XP_011511775.1:p.Phe320Ile | |
| XM_011513474.1:c.958T>A (PDE6B) | XP_011511776.1:p.Phe320Ile | |
| XM_011513475.1:c.739T>A (PDE6B) | XP_011511777.1:p.Phe247Ile | |
| XM_011513476.1:c.958T>A (PDE6B) | XP_011511778.1:p.Phe320Ile | |
| XM_011513477.1:c.-659T>A (PDE6B) | XP_011511779.1:n.-659T>A | |
| XM_011513478.1:c.-1002T>A (PDE6B) | XP_011511780.1:n.-1002T>A | |
| XR_246615.2:n.1107A>T (PDE6B-AS1) | ||
| XR_925030.1:n.958A>T (PDE6B-AS1) | ||
| NM_001350154.1:c.-99T>A (PDE6B) | NP_001337083.1:n.-99T>A | |
| NM_001350155.1:c.-302T>A (PDE6B) | NP_001337084.1:n.-302T>A | |
| XM_011513473.3:c.958T>A (PDE6B) | XP_011511775.1:p.Phe320Ile | |
| XM_011513474.3:c.958T>A (PDE6B) | XP_011511776.1:p.Phe320Ile | |
| XM_011513475.2:c.739T>A (PDE6B) | XP_011511777.1:p.Phe247Ile | |
| XM_011513476.3:c.958T>A (PDE6B) | XP_011511778.1:p.Phe320Ile | |
| XM_011513478.2:c.-1002T>A (PDE6B) | XP_011511780.1:n.-1002T>A | |
| XM_017008284.1:c.-99T>A (PDE6B) | XP_016863773.1:n.-99T>A | |
| XM_017008285.1:c.-99T>A (PDE6B) | XP_016863774.1:n.-99T>A | |
| XM_017008286.1:c.-99T>A (PDE6B) | XP_016863775.1:n.-99T>A | |
| XR_001741541.1:n.1200A>T (PDE6B-AS1) | ||
| XR_246615.3:n.1349A>T (PDE6B-AS1) | ||
| NM_001350154.2:c.-99T>A (PDE6B) | NP_001337083.1:n.-99T>A | |
| NM_001350155.2:c.-302T>A (PDE6B) | NP_001337084.1:n.-302T>A | |
| NM_000283.4:c.739T>A (PDE6B) MANE Select | NP_000274.3:p.Phe247Ile | |
| NM_001145291.2:c.739T>A (PDE6B) | NP_001138763.2:p.Phe247Ile | |
| NM_001145292.2:c.-99T>A (PDE6B) | NP_001138764.2:n.-99T>A | |
| NM_001350154.3:c.-99T>A (PDE6B) | NP_001337083.1:n.-99T>A | |
| NM_001350155.3:c.-302T>A (PDE6B) | NP_001337084.1:n.-302T>A | |
| NM_001379246.1:c.-99T>A (PDE6B) | NP_001366175.1:n.-99T>A | |
| NM_001379247.1:c.-99T>A (PDE6B) | NP_001366176.1:n.-99T>A |