Linked Data
ClinVar Variation Id:
349368
dbSNP Id:
rs143711050
ExAC:
4:648651 C / T
gnomAD v2:
4-648651-C-T
gnomAD v3:
4-654862-C-T
gnomAD v4:
4-654862-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.654862C>T , CM000666.2:g.654862C>T | GRCh38 |
| NC_000004.11:g.648651C>T , CM000666.1:g.648651C>T | GRCh37 |
| NC_000004.10:g.638651C>T | NCBI36 |
| NG_009839.1:g.34289C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000496514.6:c.966C>T (PDE6B) MANE Select | ENSP00000420295.1:p.His322= | |
| ENST00000255622.10:c.966C>T (PDE6B) | ENSP00000255622.6:p.His322= | |
| ENST00000429163.6:c.129C>T (PDE6B) | ENSP00000406334.2:p.His43= | |
| ENST00000487902.5:c.129C>T (PDE6B) | ENSP00000418256.1:p.His43= | |
| ENST00000496514.5:c.966C>T (PDE6B) | ENSP00000420295.1:p.His322= | |
| NM_000283.3:c.966C>T (PDE6B) | NP_000274.2:p.His322= | |
| NM_001145291.1:c.966C>T (PDE6B) | NP_001138763.1:p.His322= | |
| NM_001145292.1:c.129C>T (PDE6B) | NP_001138764.1:p.His43= | |
| XM_011513473.1:c.1185C>T (PDE6B) | XP_011511775.1:p.His395= | |
| XM_011513474.1:c.1185C>T (PDE6B) | XP_011511776.1:p.His395= | |
| XM_011513475.1:c.966C>T (PDE6B) | XP_011511777.1:p.His322= | |
| XM_011513476.1:c.1185C>T (PDE6B) | XP_011511778.1:p.His395= | |
| XM_011513477.1:c.238C>T (PDE6B) | XP_011511779.1:p.Arg80Trp | |
| XM_011513478.1:c.-106C>T (PDE6B) | XP_011511780.1:n.-106C>T | |
| XR_246615.2:n.865+220G>A (PDE6B-AS1) | ||
| XR_925030.1:n.865+220G>A (PDE6B-AS1) | ||
| NM_001350154.1:c.129C>T (PDE6B) | NP_001337083.1:p.His43= | |
| NM_001350155.1:c.-75C>T (PDE6B) | NP_001337084.1:n.-75C>T | |
| XM_011513473.3:c.1185C>T (PDE6B) | XP_011511775.1:p.His395= | |
| XM_011513474.3:c.1185C>T (PDE6B) | XP_011511776.1:p.His395= | |
| XM_011513475.2:c.966C>T (PDE6B) | XP_011511777.1:p.His322= | |
| XM_011513476.3:c.1185C>T (PDE6B) | XP_011511778.1:p.His395= | |
| XM_011513478.2:c.-106C>T (PDE6B) | XP_011511780.1:n.-106C>T | |
| XM_017008284.1:c.129C>T (PDE6B) | XP_016863773.1:p.His43= | |
| XM_017008285.1:c.129C>T (PDE6B) | XP_016863774.1:p.His43= | |
| XM_017008286.1:c.129C>T (PDE6B) | XP_016863775.1:p.His43= | |
| XR_001741541.1:n.1107+220G>A (PDE6B-AS1) | ||
| XR_246615.3:n.1107+220G>A (PDE6B-AS1) | ||
| NM_001350154.2:c.129C>T (PDE6B) | NP_001337083.1:p.His43= | |
| NM_001350155.2:c.-75C>T (PDE6B) | NP_001337084.1:n.-75C>T | |
| NM_000283.4:c.966C>T (PDE6B) MANE Select | NP_000274.3:p.His322= | |
| NM_001145291.2:c.966C>T (PDE6B) | NP_001138763.2:p.His322= | |
| NM_001145292.2:c.129C>T (PDE6B) | NP_001138764.2:p.His43= | |
| NM_001350154.3:c.129C>T (PDE6B) | NP_001337083.1:p.His43= | |
| NM_001350155.3:c.-75C>T (PDE6B) | NP_001337084.1:n.-75C>T | |
| NM_001379246.1:c.129C>T (PDE6B) | NP_001366175.1:p.His43= | |
| NM_001379247.1:c.129C>T (PDE6B) | NP_001366176.1:p.His43= |