Linked Data
ClinVar Variation Id:
167378
ClinVar RCV Id:
RCV000153592
RCV000224286
RCV000226496
RCV000280342
RCV000404782
RCV001094788
RCV003224174
dbSNP Id:
rs34391943
ExAC:
3:132403418 C / T
gnomAD v2:
3-132403418-C-T
gnomAD v3:
3-132684574-C-T
gnomAD v4:
3-132684574-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.132684574C>T , CM000665.2:g.132684574C>T | GRCh38 |
| NC_000003.11:g.132403418C>T , CM000665.1:g.132403418C>T | GRCh37 |
| NC_000003.10:g.133886108C>T | NCBI36 |
| NG_008130.1:g.42859G>A | |
| NG_008130.2:g.42859G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000684294.1:c.*1458G>A (NPHP3) | ENSP00000508078.1:n.*1458G>A | |
| ENST00000337331.10:c.3550G>A (NPHP3) MANE Select | ENSP00000338766.5:p.Ala1184Thr | |
| ENST00000337331.9:c.3550G>A (NPHP3) | ENSP00000338766.5:p.Ala1184Thr | |
| ENST00000465756.5:c.*1458G>A (NPHP3) | ENSP00000419907.1:n.*1458G>A | |
| ENST00000471702.2:c.*1541G>A (NPHP3-ACAD11) | ENSP00000419763.1:n.*1541G>A | |
| ENST00000474871.5:n.2749G>A (NPHP3) | ||
| ENST00000490993.5:n.4275G>A (NPHP3) | ||
| ENST00000493732.5:n.250G>A (NPHP3) | ||
| ENST00000512094.5:c.112G>A (NPHP3) | ENSP00000427666.1:p.Ala38Thr | |
| ENST00000632629.1:c.197G>A (NPHP3-ACAD11) | ||
| NM_153240.4:c.3550G>A (NPHP3) | NP_694972.3:p.Ala1184Thr | |
| NR_037804.1:n.3556G>A (NPHP3-ACAD11) | ||
| NM_153240.5:c.3550G>A (NPHP3) MANE Select | NP_694972.3:p.Ala1184Thr |