Linked Data
ClinVar Variation Id:
343389
ClinVar RCV Id:
RCV000291650
RCV000346668
RCV000381270
RCV000728292
RCV001094792
RCV002520084
RCV003151038
RCV002487509
dbSNP Id:
rs138982161
ExAC:
3:132427048 G / C
gnomAD v2:
3-132427048-G-C
gnomAD v3:
3-132708204-G-C
gnomAD v4:
3-132708204-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.132708204G>C , CM000665.2:g.132708204G>C | GRCh38 |
| NC_000003.11:g.132427048G>C , CM000665.1:g.132427048G>C | GRCh37 |
| NC_000003.10:g.133909738G>C | NCBI36 |
| NG_008130.1:g.19229C>G | |
| NG_008130.2:g.19229C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000684294.1:c.878C>G (NPHP3) | ENSP00000508078.1:p.Pro293Arg | |
| ENST00000337331.10:c.1172C>G (NPHP3) MANE Select | ENSP00000338766.5:p.Pro391Arg | |
| ENST00000337331.9:c.1172C>G (NPHP3) | ENSP00000338766.5:p.Pro391Arg | |
| ENST00000465756.5:c.878C>G (NPHP3) | ENSP00000419907.1:p.Pro293Arg | |
| ENST00000469232.5:c.987C>G (NPHP3) | ENSP00000418664.1:n.987C>G | |
| ENST00000471702.2:c.1172C>G (NPHP3-ACAD11) | ENSP00000419763.1:p.Pro391Arg | |
| ENST00000476742.1:n.406C>G (NPHP3) | ||
| ENST00000490993.5:n.948C>G (NPHP3) | ||
| NM_153240.4:c.1172C>G (NPHP3) | NP_694972.3:p.Pro391Arg | |
| NR_037804.1:n.1276C>G (NPHP3-ACAD11) | ||
| NM_153240.5:c.1172C>G (NPHP3) MANE Select | NP_694972.3:p.Pro391Arg |