Linked Data
ClinVar Variation Id:
219480
ClinVar RCV Id:
RCV000205530
RCV000261216
RCV000323357
RCV000732437
RCV001094833
RCV002500642
RCV002517369
dbSNP Id:
rs146054765
ExAC:
3:132401596 G / A
gnomAD v2:
3-132401596-G-A
gnomAD v3:
3-132682752-G-A
gnomAD v4:
3-132682752-G-A
COSMIC:
COSM1038492
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.132682752G>A , CM000665.2:g.132682752G>A | GRCh38 |
| NC_000003.11:g.132401596G>A , CM000665.1:g.132401596G>A | GRCh37 |
| NC_000003.10:g.133884286G>A | NCBI36 |
| NG_008130.1:g.44681C>T | |
| NG_008130.2:g.44681C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000684294.1:c.*1691C>T (NPHP3) | ENSP00000508078.1:n.*1691C>T | |
| ENST00000337331.10:c.3763C>T (NPHP3) MANE Select | ENSP00000338766.5:p.Arg1255Trp | |
| ENST00000337331.9:c.3763C>T (NPHP3) | ENSP00000338766.5:p.Arg1255Trp | |
| ENST00000465756.5:c.*1671C>T (NPHP3) | ENSP00000419907.1:n.*1671C>T | |
| ENST00000471702.2:c.*1754C>T (NPHP3-ACAD11) | ENSP00000419763.1:n.*1754C>T | |
| ENST00000474871.5:n.2962C>T (NPHP3) | ||
| ENST00000490993.5:n.4488C>T (NPHP3) | ||
| ENST00000493732.5:n.463C>T (NPHP3) | ||
| ENST00000512094.5:c.258+647C>T (NPHP3) | ENSP00000427666.1:n.258+647C>T | |
| ENST00000632629.1:c.410C>T (NPHP3-ACAD11) | ||
| NM_153240.4:c.3763C>T (NPHP3) | NP_694972.3:p.Arg1255Trp | |
| NR_037804.1:n.3769C>T (NPHP3-ACAD11) | ||
| NM_153240.5:c.3763C>T (NPHP3) MANE Select | NP_694972.3:p.Arg1255Trp |