Linked Data
ClinVar Variation Id:
197127
dbSNP Id:
rs144562730
ExAC:
4:647723 G / A
gnomAD v2:
4-647723-G-A
gnomAD v3:
4-653934-G-A
gnomAD v4:
4-653934-G-A
PubMed:
PMID:28127548
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.653934G>A , CM000666.2:g.653934G>A | GRCh38 |
| NC_000004.11:g.647723G>A , CM000666.1:g.647723G>A | GRCh37 |
| NC_000004.10:g.637723G>A | NCBI36 |
| NG_009839.1:g.33361G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000496514.6:c.794G>A (PDE6B) MANE Select | ENSP00000420295.1:p.Arg265Gln | |
| ENST00000255622.10:c.794G>A (PDE6B) | ENSP00000255622.6:p.Arg265Gln | |
| ENST00000429163.6:c.-44G>A (PDE6B) | ENSP00000406334.2:n.-44G>A | |
| ENST00000465426.5:c.-44G>A (PDE6B) | ENSP00000418454.1:n.-44G>A | |
| ENST00000467152.1:n.192G>A (PDE6B) | ||
| ENST00000474251.5:n.245G>A (PDE6B) | ||
| ENST00000476034.5:n.364G>A (PDE6B) | ||
| ENST00000487902.5:c.-44G>A (PDE6B) | ENSP00000418256.1:n.-44G>A | |
| ENST00000488061.5:c.-44G>A (PDE6B) | ENSP00000420228.1:n.-44G>A | |
| ENST00000496514.5:c.794G>A (PDE6B) | ENSP00000420295.1:p.Arg265Gln | |
| NM_000283.3:c.794G>A (PDE6B) | NP_000274.2:p.Arg265Gln | |
| NM_001145291.1:c.794G>A (PDE6B) | NP_001138763.1:p.Arg265Gln | |
| NM_001145292.1:c.-44G>A (PDE6B) | NP_001138764.1:n.-44G>A | |
| XM_011513473.1:c.1013G>A (PDE6B) | XP_011511775.1:p.Arg338Gln | |
| XM_011513474.1:c.1013G>A (PDE6B) | XP_011511776.1:p.Arg338Gln | |
| XM_011513475.1:c.794G>A (PDE6B) | XP_011511777.1:p.Arg265Gln | |
| XM_011513476.1:c.1013G>A (PDE6B) | XP_011511778.1:p.Arg338Gln | |
| XM_011513477.1:c.-604G>A (PDE6B) | XP_011511779.1:n.-604G>A | |
| XM_011513478.1:c.-947G>A (PDE6B) | XP_011511780.1:n.-947G>A | |
| XR_246615.2:n.1052C>T (PDE6B-AS1) | ||
| XR_925030.1:n.903C>T (PDE6B-AS1) | ||
| NM_001350154.1:c.-44G>A (PDE6B) | NP_001337083.1:n.-44G>A | |
| NM_001350155.1:c.-247G>A (PDE6B) | NP_001337084.1:n.-247G>A | |
| XM_011513473.3:c.1013G>A (PDE6B) | XP_011511775.1:p.Arg338Gln | |
| XM_011513474.3:c.1013G>A (PDE6B) | XP_011511776.1:p.Arg338Gln | |
| XM_011513475.2:c.794G>A (PDE6B) | XP_011511777.1:p.Arg265Gln | |
| XM_011513476.3:c.1013G>A (PDE6B) | XP_011511778.1:p.Arg338Gln | |
| XM_011513478.2:c.-947G>A (PDE6B) | XP_011511780.1:n.-947G>A | |
| XM_017008284.1:c.-44G>A (PDE6B) | XP_016863773.1:n.-44G>A | |
| XM_017008285.1:c.-44G>A (PDE6B) | XP_016863774.1:n.-44G>A | |
| XM_017008286.1:c.-44G>A (PDE6B) | XP_016863775.1:n.-44G>A | |
| XR_001741541.1:n.1145C>T (PDE6B-AS1) | ||
| XR_246615.3:n.1294C>T (PDE6B-AS1) | ||
| NM_001350154.2:c.-44G>A (PDE6B) | NP_001337083.1:n.-44G>A | |
| NM_001350155.2:c.-247G>A (PDE6B) | NP_001337084.1:n.-247G>A | |
| NM_000283.4:c.794G>A (PDE6B) MANE Select | NP_000274.3:p.Arg265Gln | |
| NM_001145291.2:c.794G>A (PDE6B) | NP_001138763.2:p.Arg265Gln | |
| NM_001145292.2:c.-44G>A (PDE6B) | NP_001138764.2:n.-44G>A | |
| NM_001350154.3:c.-44G>A (PDE6B) | NP_001337083.1:n.-44G>A | |
| NM_001350155.3:c.-247G>A (PDE6B) | NP_001337084.1:n.-247G>A | |
| NM_001379246.1:c.-44G>A (PDE6B) | NP_001366175.1:n.-44G>A | |
| NM_001379247.1:c.-44G>A (PDE6B) | NP_001366176.1:n.-44G>A |