Linked Data
ClinVar Variation Id:
462731
dbSNP Id:
rs139693694
ExAC:
3:132437887 T / C
gnomAD v2:
3-132437887-T-C
gnomAD v3:
3-132719043-T-C
gnomAD v4:
3-132719043-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.132719043T>C , CM000665.2:g.132719043T>C | GRCh38 |
| NC_000003.11:g.132437887T>C , CM000665.1:g.132437887T>C | GRCh37 |
| NC_000003.10:g.133920577T>C | NCBI36 |
| NG_008130.1:g.8390A>G | |
| NG_008130.2:g.8390A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000684294.1:c.327A>G (NPHP3) | ENSP00000508078.1:p.Val109= | |
| ENST00000684756.1:n.344A>G (NPHP3) | ||
| ENST00000337331.10:c.621A>G (NPHP3) MANE Select | ENSP00000338766.5:p.Val207= | |
| ENST00000337331.9:c.621A>G (NPHP3) | ENSP00000338766.5:p.Val207= | |
| ENST00000465756.5:c.327A>G (NPHP3) | ENSP00000419907.1:p.Val109= | |
| ENST00000469232.5:c.273A>G (NPHP3) | ENSP00000418664.1:p.Val91= | |
| ENST00000471145.1:n.261A>G (NPHP3) | ||
| ENST00000471702.2:c.621A>G (NPHP3-ACAD11) | ENSP00000419763.1:p.Val207= | |
| NM_153240.4:c.621A>G (NPHP3) | NP_694972.3:p.Val207= | |
| NR_037804.1:n.725A>G (NPHP3-ACAD11) | ||
| NM_153240.5:c.621A>G (NPHP3) MANE Select | NP_694972.3:p.Val207= |