gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00000429 (NFE)
Exomes Max Group AF
0.00000381 (NFE)
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.132690662G>C , CM000665.2:g.132690662G>C | GRCh38 |
| NC_000003.11:g.132409506G>C , CM000665.1:g.132409506G>C | GRCh37 |
| NC_000003.10:g.133892196G>C | NCBI36 |
| NG_008130.1:g.36771C>G | |
| NG_008130.2:g.36771C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000684294.1:c.*479-12C>G (NPHP3) | ENSP00000508078.1:n.*479-12C>G | |
| ENST00000337331.10:c.2571-12C>G (NPHP3) MANE Select | ENSP00000338766.5:n.2571-12C>G | |
| ENST00000337331.9:c.2571-12C>G (NPHP3) | ENSP00000338766.5:n.2571-12C>G | |
| ENST00000465756.5:c.*479-12C>G (NPHP3) | ENSP00000419907.1:n.*479-12C>G | |
| ENST00000471702.2:c.*562-12C>G (NPHP3-ACAD11) | ENSP00000419763.1:n.*562-12C>G | |
| ENST00000474871.5:n.305-12C>G (NPHP3) | ||
| ENST00000490993.5:n.3296-12C>G (NPHP3) | ||
| NM_153240.4:c.2571-12C>G (NPHP3) | NP_694972.3:n.2571-12C>G | |
| NR_037804.1:n.2577-12C>G (NPHP3-ACAD11) | ||
| NM_153240.5:c.2571-12C>G (NPHP3) MANE Select | NP_694972.3:n.2571-12C>G |