gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00048605 (AFR)
Genomes Max Group AF
0.00039906 (AFR)
Exomes Max Group AF
0.00047356 (AFR)
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.132719816C>T , CM000665.2:g.132719816C>T | GRCh38 |
| NC_000003.11:g.132438660C>T , CM000665.1:g.132438660C>T | GRCh37 |
| NC_000003.10:g.133921350C>T | NCBI36 |
| NG_008130.1:g.7617G>A | |
| NG_008130.2:g.7617G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000684294.1:c.114G>A (NPHP3) | ENSP00000508078.1:p.Thr38= | |
| ENST00000684756.1:n.131G>A (NPHP3) | ||
| ENST00000337331.10:c.408G>A (NPHP3) MANE Select | ENSP00000338766.5:p.Thr136= | |
| ENST00000337331.9:c.408G>A (NPHP3) | ENSP00000338766.5:p.Thr136= | |
| ENST00000465756.5:c.114G>A (NPHP3) | ENSP00000419907.1:p.Thr38= | |
| ENST00000469232.5:c.60G>A (NPHP3) | ENSP00000418664.1:p.Thr20= | |
| ENST00000471145.1:n.48G>A (NPHP3) | ||
| ENST00000471702.2:c.408G>A (NPHP3-ACAD11) | ENSP00000419763.1:p.Thr136= | |
| NM_153240.4:c.408G>A (NPHP3) | NP_694972.3:p.Thr136= | |
| NR_037804.1:n.512G>A (NPHP3-ACAD11) | ||
| NM_153240.5:c.408G>A (NPHP3) MANE Select | NP_694972.3:p.Thr136= |