Linked Data
ClinVar Variation Id:
502749
dbSNP Id:
rs1025642403
gnomAD v3:
3-132692711-T-C
gnomAD v4:
3-132692711-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.132692711T>C , CM000665.2:g.132692711T>C | GRCh38 |
| NC_000003.11:g.132411555T>C , CM000665.1:g.132411555T>C | GRCh37 |
| NC_000003.10:g.133894245T>C | NCBI36 |
| NG_008130.1:g.34722A>G | |
| NG_008130.2:g.34722A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000684294.1:c.*326A>G (NPHP3) | ENSP00000508078.1:n.*326A>G | |
| ENST00000337331.10:c.2418A>G (NPHP3) MANE Select | ENSP00000338766.5:p.Leu806= | |
| ENST00000337331.9:c.2418A>G (NPHP3) | ENSP00000338766.5:p.Leu806= | |
| ENST00000465756.5:c.*326A>G (NPHP3) | ENSP00000419907.1:n.*326A>G | |
| ENST00000471702.2:c.*409A>G (NPHP3-ACAD11) | ENSP00000419763.1:n.*409A>G | |
| ENST00000474871.5:n.152A>G (NPHP3) | ||
| ENST00000490993.5:n.3143A>G (NPHP3) | ||
| ENST00000515289.2:n.438A>G (NPHP3) | ||
| NM_153240.4:c.2418A>G (NPHP3) | NP_694972.3:p.Leu806= | |
| NR_037804.1:n.2424A>G (NPHP3-ACAD11) | ||
| NM_153240.5:c.2418A>G (NPHP3) MANE Select | NP_694972.3:p.Leu806= |