gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.73940856 (EAS)
Genomes Max Group AF
0.73940856 (EAS)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.20687905T>C , CM000674.2:g.20687905T>C | GRCh38 |
| NC_000012.11:g.20840839T>C , CM000674.1:g.20840839T>C | GRCh37 |
| NC_000012.10:g.20732106T>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000359062.4:c.*7634T>C (PDE3A) MANE Select | ENSP00000351957.3:n.*7634T>C | |
| XM_005253394.3:c.-7805T>C (SLCO1C1) | XP_005253451.1:n.-7805T>C | |
| XM_005253396.3:c.-7863T>C (SLCO1C1) | XP_005253453.1:n.-7863T>C | |
| XM_011520703.3:c.-7805T>C (SLCO1C1) | XP_011519005.1:n.-7805T>C | |
| XM_011520704.3:c.-7805T>C (SLCO1C1) | XP_011519006.1:n.-7805T>C | |
| XM_011520711.3:c.-8062T>C (SLCO1C1) | XP_011519013.1:n.-8062T>C | |
| XM_017019421.2:c.*7634T>C (PDE3A) | XP_016874910.1:n.*7634T>C | |
| XM_017019486.2:c.-8017T>C (SLCO1C1) | XP_016874975.1:n.-8017T>C | |
| XM_017019487.2:c.-7863T>C (SLCO1C1) | XP_016874976.1:n.-7863T>C | |
| XM_017019489.2:c.-8715T>C (SLCO1C1) | XP_016874978.1:n.-8715T>C | |
| XM_017019490.2:c.-8679T>C (SLCO1C1) | XP_016874979.1:n.-8679T>C | |
| XR_001748768.2:n.5609T>C (SLCO1C1) | ||
| XR_001748769.2:n.5609T>C (SLCO1C1) | ||
| XR_001748770.2:n.5609T>C (SLCO1C1) | ||
| XR_001748771.2:n.6106T>C (SLCO1C1) | ||
| NM_000921.5:c.*7634T>C (PDE3A) MANE Select | NP_000912.3:n.*7634T>C | |
| NM_001244683.2:c.*7634T>C (PDE3A) | NP_001231612.1:n.*7634T>C | |
| NM_001378407.1:c.*7634T>C (PDE3A) | NP_001365336.1:n.*7634T>C | |
| NM_001378408.1:c.*7788T>C (PDE3A) | NP_001365337.1:n.*7788T>C |