Linked Data
ClinVar Variation Id:
513225
dbSNP Id:
rs762134618
ExAC:
3:132440894 G / A
gnomAD v2:
3-132440894-G-A
gnomAD v3:
3-132722050-G-A
gnomAD v4:
3-132722050-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.132722050G>A , CM000665.2:g.132722050G>A | GRCh38 |
| NC_000003.11:g.132440894G>A , CM000665.1:g.132440894G>A | GRCh37 |
| NC_000003.10:g.133923584G>A | NCBI36 |
| NG_008130.1:g.5383C>T | |
| NG_008130.2:g.5383C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000683570.1:c.306C>T (NPHP3) | ENSP00000508409.1:p.Arg102= | |
| ENST00000684294.1:c.99+207C>T (NPHP3) | ENSP00000508078.1:n.99+207C>T | |
| ENST00000684756.1:n.29C>T (NPHP3) | ||
| ENST00000337331.10:c.306C>T (NPHP3) MANE Select | ENSP00000338766.5:p.Arg102= | |
| ENST00000337331.9:c.306C>T (NPHP3) | ENSP00000338766.5:p.Arg102= | |
| ENST00000383282.3:c.306C>T (NPHP3-ACAD11) | ENSP00000372769.2:p.Arg102= | |
| ENST00000465756.5:c.99+207C>T (NPHP3) | ENSP00000419907.1:n.99+207C>T | |
| ENST00000471702.2:c.306C>T (NPHP3-ACAD11) | ENSP00000419763.1:p.Arg102= | |
| NM_153240.4:c.306C>T (NPHP3) | NP_694972.3:p.Arg102= | |
| NR_037804.1:n.410C>T (NPHP3-ACAD11) | ||
| NR_002811.2:n.301G>A (NPHP3-AS1) | ||
| NR_152743.1:n.301G>A (NPHP3-AS1) | ||
| NM_153240.5:c.306C>T (NPHP3) MANE Select | NP_694972.3:p.Arg102= |