Linked Data
ClinVar Variation Id:
501950
dbSNP Id:
rs200533815
ExAC:
3:132437851 A / G
gnomAD v2:
3-132437851-A-G
gnomAD v3:
3-132719007-A-G
gnomAD v4:
3-132719007-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.132719007A>G , CM000665.2:g.132719007A>G | GRCh38 |
| NC_000003.11:g.132437851A>G , CM000665.1:g.132437851A>G | GRCh37 |
| NC_000003.10:g.133920541A>G | NCBI36 |
| NG_008130.1:g.8426T>C | |
| NG_008130.2:g.8426T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000684294.1:c.363T>C (NPHP3) | ENSP00000508078.1:p.Cys121= | |
| ENST00000684756.1:n.380T>C (NPHP3) | ||
| ENST00000337331.10:c.657T>C (NPHP3) MANE Select | ENSP00000338766.5:p.Cys219= | |
| ENST00000337331.9:c.657T>C (NPHP3) | ENSP00000338766.5:p.Cys219= | |
| ENST00000465756.5:c.363T>C (NPHP3) | ENSP00000419907.1:p.Cys121= | |
| ENST00000469232.5:c.309T>C (NPHP3) | ENSP00000418664.1:p.Cys103= | |
| ENST00000471145.1:n.297T>C (NPHP3) | ||
| ENST00000471702.2:c.657T>C (NPHP3-ACAD11) | ENSP00000419763.1:p.Cys219= | |
| NM_153240.4:c.657T>C (NPHP3) | NP_694972.3:p.Cys219= | |
| NR_037804.1:n.761T>C (NPHP3-ACAD11) | ||
| NM_153240.5:c.657T>C (NPHP3) MANE Select | NP_694972.3:p.Cys219= |