Linked Data
ClinVar Variation Id:
262716
dbSNP Id:
rs202228115
ExAC:
3:132437825 G / A
gnomAD v2:
3-132437825-G-A
gnomAD v3:
3-132718981-G-A
gnomAD v4:
3-132718981-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.132718981G>A , CM000665.2:g.132718981G>A | GRCh38 |
| NC_000003.11:g.132437825G>A , CM000665.1:g.132437825G>A | GRCh37 |
| NC_000003.10:g.133920515G>A | NCBI36 |
| NG_008130.1:g.8452C>T | |
| NG_008130.2:g.8452C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000684294.1:c.376+13C>T (NPHP3) | ENSP00000508078.1:n.376+13C>T | |
| ENST00000684756.1:n.406C>T (NPHP3) | ||
| ENST00000337331.10:c.670+13C>T (NPHP3) MANE Select | ENSP00000338766.5:n.670+13C>T | |
| ENST00000337331.9:c.670+13C>T (NPHP3) | ENSP00000338766.5:n.670+13C>T | |
| ENST00000465756.5:c.376+13C>T (NPHP3) | ENSP00000419907.1:n.376+13C>T | |
| ENST00000469232.5:c.322+13C>T (NPHP3) | ENSP00000418664.1:n.322+13C>T | |
| ENST00000471145.1:n.310+13C>T (NPHP3) | ||
| ENST00000471702.2:c.670+13C>T (NPHP3-ACAD11) | ENSP00000419763.1:n.670+13C>T | |
| NM_153240.4:c.670+13C>T (NPHP3) | NP_694972.3:n.670+13C>T | |
| NR_037804.1:n.774+13C>T (NPHP3-ACAD11) | ||
| NM_153240.5:c.670+13C>T (NPHP3) MANE Select | NP_694972.3:n.670+13C>T |