Linked Data
ClinVar Variation Id:
354196
ClinVar RCV Id:
RCV000268308
dbSNP Id:
rs189940792
gnomAD v2:
5-76723120-A-T
gnomAD v3:
5-77427295-A-T
gnomAD v4:
5-77427295-A-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.77427295A>T , CM000667.2:g.77427295A>T | GRCh38 |
| NC_000005.9:g.76723120A>T , CM000667.1:g.76723120A>T | GRCh37 |
| NC_000005.8:g.76758876A>T | NCBI36 |
| NG_023364.1:g.221415A>T | |
| NG_023364.2:g.252044A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000264917.10:c.*741A>T (PDE8B) MANE Select | ENSP00000264917.6:n.*741A>T | |
| ENST00000264917.9:c.*741A>T (PDE8B) | ENSP00000264917.5:n.*741A>T | |
| ENST00000340978.7:c.*741A>T (PDE8B) | ENSP00000345446.3:n.*741A>T | |
| ENST00000346042.7:c.*741A>T (PDE8B) | ENSP00000330428.3:n.*741A>T | |
| ENST00000505283.1:c.*741A>T (PDE8B) | ENSP00000423461.1:n.*741A>T | |
| ENST00000508154.1:n.76-261T>A (WDR41) | ||
| ENST00000512033.1:n.415-261T>A (WDR41) | ||
| ENST00000514878.1:n.64-261T>A (WDR41) | ||
| NM_001029851.2:c.*741A>T (PDE8B) | NP_001025022.1:n.*741A>T | |
| NM_001029852.2:c.*741A>T (PDE8B) | NP_001025023.1:n.*741A>T | |
| NM_001029853.2:c.*741A>T (PDE8B) | NP_001025024.1:n.*741A>T | |
| NM_001029854.2:c.*741A>T (PDE8B) | NP_001025025.1:n.*741A>T | |
| NM_003719.3:c.*741A>T (PDE8B) | NP_003710.1:n.*741A>T | |
| NM_001349748.1:c.*741A>T (PDE8B) | NP_001336677.1:n.*741A>T | |
| NM_001349749.1:c.*741A>T (PDE8B) | NP_001336678.1:n.*741A>T | |
| NM_001349750.1:c.*741A>T (PDE8B) | NP_001336679.1:n.*741A>T | |
| NM_001349751.1:c.*827A>T (PDE8B) | NP_001336680.1:n.*827A>T | |
| NM_001349752.1:c.*741A>T (PDE8B) | NP_001336681.1:n.*741A>T | |
| NM_001349753.1:c.*741A>T (PDE8B) | NP_001336682.1:n.*741A>T | |
| XM_005248623.4:c.*741A>T (PDE8B) | XP_005248680.1:n.*741A>T | |
| XM_006714726.3:c.*741A>T (PDE8B) | XP_006714789.1:n.*741A>T | |
| XM_011543704.2:c.*741A>T (PDE8B) | XP_011542006.1:n.*741A>T | |
| XM_024446253.1:c.*741A>T (PDE8B) | XP_024302021.1:n.*741A>T | |
| XR_001742140.1:n.1910-261T>A (WDR41) | ||
| NM_001029851.4:c.*741A>T (PDE8B) | NP_001025022.1:n.*741A>T | |
| NM_001029852.4:c.*741A>T (PDE8B) | NP_001025023.1:n.*741A>T | |
| NM_001029853.4:c.*741A>T (PDE8B) | NP_001025024.1:n.*741A>T | |
| NM_001029854.4:c.*741A>T (PDE8B) | NP_001025025.1:n.*741A>T | |
| NM_001349748.3:c.*741A>T (PDE8B) | NP_001336677.1:n.*741A>T | |
| NM_001349749.3:c.*741A>T (PDE8B) | NP_001336678.1:n.*741A>T | |
| NM_001349750.3:c.*741A>T (PDE8B) | NP_001336679.1:n.*741A>T | |
| NM_001349751.3:c.*827A>T (PDE8B) | NP_001336680.1:n.*827A>T | |
| NM_001349752.3:c.*741A>T (PDE8B) | NP_001336681.1:n.*741A>T | |
| NM_001349753.2:c.*741A>T (PDE8B) | NP_001336682.1:n.*741A>T | |
| NM_001376062.1:c.*741A>T (PDE8B) | NP_001362991.1:n.*741A>T | |
| NM_001376063.1:c.*741A>T (PDE8B) | NP_001362992.1:n.*741A>T | |
| NM_001376064.1:c.*741A>T (PDE8B) | NP_001362993.1:n.*741A>T | |
| NM_001376065.1:c.*741A>T (PDE8B) | NP_001362994.1:n.*741A>T | |
| NM_001376066.1:c.*741A>T (PDE8B) | NP_001362995.1:n.*741A>T | |
| NM_001376067.1:c.*741A>T (PDE8B) | NP_001362996.1:n.*741A>T | |
| NM_001376068.1:c.*741A>T (PDE8B) | NP_001362997.1:n.*741A>T | |
| NM_001376069.1:c.*741A>T (PDE8B) | NP_001362998.1:n.*741A>T | |
| NM_001376070.1:c.*741A>T (PDE8B) | NP_001362999.1:n.*741A>T | |
| NM_001376071.1:c.*741A>T (PDE8B) | NP_001363000.1:n.*741A>T | |
| NM_001376072.1:c.*827A>T (PDE8B) | NP_001363001.1:n.*827A>T | |
| NM_001376073.1:c.*741A>T (PDE8B) | NP_001363002.1:n.*741A>T | |
| NM_001376074.1:c.*741A>T (PDE8B) | NP_001363003.1:n.*741A>T | |
| NM_001376075.1:c.*741A>T (PDE8B) | NP_001363004.1:n.*741A>T | |
| NM_003719.5:c.*741A>T (PDE8B) MANE Select | NP_003710.1:n.*741A>T |