Linked Data
ClinVar Variation Id:
96508
ClinVar RCV Id:
RCV000082660
RCV000259061
RCV001145352
RCV001086780
RCV001145353
RCV001145354
RCV002251973
RCV004529870
dbSNP Id:
rs142021049
ExAC:
3:132427063 T / C
gnomAD v2:
3-132427063-T-C
gnomAD v3:
3-132708219-T-C
gnomAD v4:
3-132708219-T-C
PubMed:
PMID:23891399
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.132708219T>C , CM000665.2:g.132708219T>C | GRCh38 |
| NC_000003.11:g.132427063T>C , CM000665.1:g.132427063T>C | GRCh37 |
| NC_000003.10:g.133909753T>C | NCBI36 |
| NG_008130.1:g.19214A>G | |
| NG_008130.2:g.19214A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000684294.1:c.863A>G (NPHP3) | ENSP00000508078.1:p.Asn288Ser | |
| ENST00000337331.10:c.1157A>G (NPHP3) MANE Select | ENSP00000338766.5:p.Asn386Ser | |
| ENST00000337331.9:c.1157A>G (NPHP3) | ENSP00000338766.5:p.Asn386Ser | |
| ENST00000465756.5:c.863A>G (NPHP3) | ENSP00000419907.1:p.Asn288Ser | |
| ENST00000469232.5:c.972A>G (NPHP3) | ENSP00000418664.1:n.972A>G | |
| ENST00000471702.2:c.1157A>G (NPHP3-ACAD11) | ENSP00000419763.1:p.Asn386Ser | |
| ENST00000476742.1:n.391A>G (NPHP3) | ||
| ENST00000490993.5:n.933A>G (NPHP3) | ||
| NM_153240.4:c.1157A>G (NPHP3) | NP_694972.3:p.Asn386Ser | |
| NR_037804.1:n.1261A>G (NPHP3-ACAD11) | ||
| NM_153240.5:c.1157A>G (NPHP3) MANE Select | NP_694972.3:p.Asn386Ser |