Linked Data
ClinVar Variation Id:
343394
dbSNP Id:
rs765533675
ExAC:
3:132440992 G / A
gnomAD v2:
3-132440992-G-A
gnomAD v3:
3-132722148-G-A
gnomAD v4:
3-132722148-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.132722148G>A , CM000665.2:g.132722148G>A | GRCh38 |
| NC_000003.11:g.132440992G>A , CM000665.1:g.132440992G>A | GRCh37 |
| NC_000003.10:g.133923682G>A | NCBI36 |
| NG_008130.1:g.5285C>T | |
| NG_008130.2:g.5285C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000683570.1:c.208C>T (NPHP3) | ENSP00000508409.1:p.Leu70= | |
| ENST00000684294.1:c.99+109C>T (NPHP3) | ENSP00000508078.1:n.99+109C>T | |
| ENST00000337331.10:c.208C>T (NPHP3) MANE Select | ENSP00000338766.5:p.Leu70= | |
| ENST00000337331.9:c.208C>T (NPHP3) | ENSP00000338766.5:p.Leu70= | |
| ENST00000383282.3:c.208C>T (NPHP3-ACAD11) | ENSP00000372769.2:p.Leu70= | |
| ENST00000465756.5:c.99+109C>T (NPHP3) | ENSP00000419907.1:n.99+109C>T | |
| ENST00000471702.2:c.208C>T (NPHP3-ACAD11) | ENSP00000419763.1:p.Leu70= | |
| NM_153240.4:c.208C>T (NPHP3) | NP_694972.3:p.Leu70= | |
| NR_037804.1:n.312C>T (NPHP3-ACAD11) | ||
| NR_002811.2:n.399G>A (NPHP3-AS1) | ||
| NR_152743.1:n.399G>A (NPHP3-AS1) | ||
| NM_153240.5:c.208C>T (NPHP3) MANE Select | NP_694972.3:p.Leu70= |