Linked Data
ClinVar Variation Id:
2633
ClinVar RCV Id:
RCV000002751
dbSNP Id:
rs119456960
PubMed:
PMID:12872122
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.132713165C>G , CM000665.2:g.132713165C>G | GRCh38 |
| NC_000003.11:g.132432009C>G , CM000665.1:g.132432009C>G | GRCh37 |
| NC_000003.10:g.133914699C>G | NCBI36 |
| NG_008130.1:g.14268G>C | |
| NG_008130.2:g.14268G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000684294.1:c.785G>C (NPHP3) | ENSP00000508078.1:p.Ser262Thr | |
| ENST00000337331.10:c.1079G>C (NPHP3) MANE Select | ENSP00000338766.5:p.Ser360Thr | |
| ENST00000337331.9:c.1079G>C (NPHP3) | ENSP00000338766.5:p.Ser360Thr | |
| ENST00000465756.5:c.785G>C (NPHP3) | ENSP00000419907.1:p.Ser262Thr | |
| ENST00000469232.5:c.894G>C (NPHP3) | ENSP00000418664.1:n.894G>C | |
| ENST00000471702.2:c.1079G>C (NPHP3-ACAD11) | ENSP00000419763.1:p.Ser360Thr | |
| ENST00000476742.1:n.313G>C (NPHP3) | ||
| ENST00000490993.5:n.855G>C (NPHP3) | ||
| NM_153240.4:c.1079G>C (NPHP3) | NP_694972.3:p.Ser360Thr | |
| NR_037804.1:n.1183G>C (NPHP3-ACAD11) | ||
| NM_153240.5:c.1079G>C (NPHP3) MANE Select | NP_694972.3:p.Ser360Thr |