Linked Data
ClinVar Variation Id:
462728
dbSNP Id:
rs745342273
ExAC:
3:132438638 T / C
gnomAD v2:
3-132438638-T-C
gnomAD v3:
3-132719794-T-C
gnomAD v4:
3-132719794-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.132719794T>C , CM000665.2:g.132719794T>C | GRCh38 |
| NC_000003.11:g.132438638T>C , CM000665.1:g.132438638T>C | GRCh37 |
| NC_000003.10:g.133921328T>C | NCBI36 |
| NG_008130.1:g.7639A>G | |
| NG_008130.2:g.7639A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000684294.1:c.136A>G (NPHP3) | ENSP00000508078.1:p.Lys46Glu | |
| ENST00000684756.1:n.153A>G (NPHP3) | ||
| ENST00000337331.10:c.430A>G (NPHP3) MANE Select | ENSP00000338766.5:p.Lys144Glu | |
| ENST00000337331.9:c.430A>G (NPHP3) | ENSP00000338766.5:p.Lys144Glu | |
| ENST00000465756.5:c.136A>G (NPHP3) | ENSP00000419907.1:p.Lys46Glu | |
| ENST00000469232.5:c.82A>G (NPHP3) | ENSP00000418664.1:p.Lys28Glu | |
| ENST00000471145.1:n.70A>G (NPHP3) | ||
| ENST00000471702.2:c.430A>G (NPHP3-ACAD11) | ENSP00000419763.1:p.Lys144Glu | |
| NM_153240.4:c.430A>G (NPHP3) | NP_694972.3:p.Lys144Glu | |
| NR_037804.1:n.534A>G (NPHP3-ACAD11) | ||
| NM_153240.5:c.430A>G (NPHP3) MANE Select | NP_694972.3:p.Lys144Glu |