gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00049472 (AFR)
Genomes Max Group AF
0.00035777 (AFR)
Exomes Max Group AF
0.00054347 (AFR)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.132684788A>G , CM000665.2:g.132684788A>G | GRCh38 |
| NC_000003.11:g.132403632A>G , CM000665.1:g.132403632A>G | GRCh37 |
| NC_000003.10:g.133886322A>G | NCBI36 |
| NG_008130.1:g.42645T>C | |
| NG_008130.2:g.42645T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000684294.1:c.*1244T>C (NPHP3) | ENSP00000508078.1:n.*1244T>C | |
| ENST00000337331.10:c.3336T>C (NPHP3) MANE Select | ENSP00000338766.5:p.Ala1112= | |
| ENST00000337331.9:c.3336T>C (NPHP3) | ENSP00000338766.5:p.Ala1112= | |
| ENST00000465756.5:c.*1244T>C (NPHP3) | ENSP00000419907.1:n.*1244T>C | |
| ENST00000471702.2:c.*1327T>C (NPHP3-ACAD11) | ENSP00000419763.1:n.*1327T>C | |
| ENST00000474871.5:n.2535T>C (NPHP3) | ||
| ENST00000490993.5:n.4061T>C (NPHP3) | ||
| ENST00000493732.5:n.36T>C (NPHP3) | ||
| NM_153240.4:c.3336T>C (NPHP3) | NP_694972.3:p.Ala1112= | |
| NR_037804.1:n.3342T>C (NPHP3-ACAD11) | ||
| NM_153240.5:c.3336T>C (NPHP3) MANE Select | NP_694972.3:p.Ala1112= |