Linked Data
ClinVar Variation Id:
502748
dbSNP Id:
rs988823074
gnomAD v3:
3-132715148-G-A
gnomAD v4:
3-132715148-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.132715148G>A , CM000665.2:g.132715148G>A | GRCh38 |
| NC_000003.11:g.132433992G>A , CM000665.1:g.132433992G>A | GRCh37 |
| NC_000003.10:g.133916682G>A | NCBI36 |
| NG_008130.1:g.12285C>T | |
| NG_008130.2:g.12285C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000684294.1:c.600C>T (NPHP3) | ENSP00000508078.1:p.Asn200= | |
| ENST00000337331.10:c.894C>T (NPHP3) MANE Select | ENSP00000338766.5:p.Asn298= | |
| ENST00000337331.9:c.894C>T (NPHP3) | ENSP00000338766.5:p.Asn298= | |
| ENST00000465756.5:c.600C>T (NPHP3) | ENSP00000419907.1:p.Asn200= | |
| ENST00000469232.5:c.709C>T (NPHP3) | ENSP00000418664.1:n.709C>T | |
| ENST00000471702.2:c.894C>T (NPHP3-ACAD11) | ENSP00000419763.1:p.Asn298= | |
| ENST00000476742.1:n.128C>T (NPHP3) | ||
| ENST00000490993.5:n.670C>T (NPHP3) | ||
| NM_153240.4:c.894C>T (NPHP3) | NP_694972.3:p.Asn298= | |
| NR_037804.1:n.998C>T (NPHP3-ACAD11) | ||
| NM_153240.5:c.894C>T (NPHP3) MANE Select | NP_694972.3:p.Asn298= |