Linked Data
ClinVar Variation Id:
195996
dbSNP Id:
rs143451766
ExAC:
3:132401603 G / C
gnomAD v2:
3-132401603-G-C
gnomAD v3:
3-132682759-G-C
gnomAD v4:
3-132682759-G-C
PubMed:
PMID:23891399
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.132682759G>C , CM000665.2:g.132682759G>C | GRCh38 |
| NC_000003.11:g.132401603G>C , CM000665.1:g.132401603G>C | GRCh37 |
| NC_000003.10:g.133884293G>C | NCBI36 |
| NG_008130.1:g.44674C>G | |
| NG_008130.2:g.44674C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000684294.1:c.*1684C>G (NPHP3) | ENSP00000508078.1:n.*1684C>G | |
| ENST00000337331.10:c.3756C>G (NPHP3) MANE Select | ENSP00000338766.5:p.Ser1252Arg | |
| ENST00000337331.9:c.3756C>G (NPHP3) | ENSP00000338766.5:p.Ser1252Arg | |
| ENST00000465756.5:c.*1664C>G (NPHP3) | ENSP00000419907.1:n.*1664C>G | |
| ENST00000471702.2:c.*1747C>G (NPHP3-ACAD11) | ENSP00000419763.1:n.*1747C>G | |
| ENST00000474871.5:n.2955C>G (NPHP3) | ||
| ENST00000490993.5:n.4481C>G (NPHP3) | ||
| ENST00000493732.5:n.456C>G (NPHP3) | ||
| ENST00000512094.5:c.258+640C>G (NPHP3) | ENSP00000427666.1:n.258+640C>G | |
| ENST00000632629.1:c.403C>G (NPHP3-ACAD11) | ||
| NM_153240.4:c.3756C>G (NPHP3) | NP_694972.3:p.Ser1252Arg | |
| NR_037804.1:n.3762C>G (NPHP3-ACAD11) | ||
| NM_153240.5:c.3756C>G (NPHP3) MANE Select | NP_694972.3:p.Ser1252Arg |