Linked Data
ClinVar Variation Id:
343391
dbSNP Id:
rs201425936
ExAC:
3:132440816 G / C
gnomAD v2:
3-132440816-G-C
gnomAD v3:
3-132721972-G-C
gnomAD v4:
3-132721972-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.132721972G>C , CM000665.2:g.132721972G>C | GRCh38 |
| NC_000003.11:g.132440816G>C , CM000665.1:g.132440816G>C | GRCh37 |
| NC_000003.10:g.133923506G>C | NCBI36 |
| NG_008130.1:g.5461C>G | |
| NG_008130.2:g.5461C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000683570.1:c.384C>G (NPHP3) | ENSP00000508409.1:p.Ala128= | |
| ENST00000684294.1:c.99+285C>G (NPHP3) | ENSP00000508078.1:n.99+285C>G | |
| ENST00000684756.1:n.107C>G (NPHP3) | ||
| ENST00000337331.10:c.384C>G (NPHP3) MANE Select | ENSP00000338766.5:p.Ala128= | |
| ENST00000337331.9:c.384C>G (NPHP3) | ENSP00000338766.5:p.Ala128= | |
| ENST00000383282.3:c.384C>G (NPHP3-ACAD11) | ENSP00000372769.2:p.Ala128= | |
| ENST00000465756.5:c.99+285C>G (NPHP3) | ENSP00000419907.1:n.99+285C>G | |
| ENST00000469232.5:c.36C>G (NPHP3) | ENSP00000418664.1:p.Ala12= | |
| ENST00000471702.2:c.384C>G (NPHP3-ACAD11) | ENSP00000419763.1:p.Ala128= | |
| NM_153240.4:c.384C>G (NPHP3) | NP_694972.3:p.Ala128= | |
| NR_037804.1:n.488C>G (NPHP3-ACAD11) | ||
| NR_002811.2:n.223G>C (NPHP3-AS1) | ||
| NR_152743.1:n.223G>C (NPHP3-AS1) | ||
| NM_153240.5:c.384C>G (NPHP3) MANE Select | NP_694972.3:p.Ala128= |