Linked Data
dbSNP Id:
rs768306243
ExAC:
3:132408101 G / T
gnomAD v2:
3-132408101-G-T
gnomAD v4:
3-132689257-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.132689257G>T , CM000665.2:g.132689257G>T | GRCh38 |
| NC_000003.11:g.132408101G>T , CM000665.1:g.132408101G>T | GRCh37 |
| NC_000003.10:g.133890791G>T | NCBI36 |
| NG_008130.1:g.38176C>A | |
| NG_008130.2:g.38176C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000684294.1:c.*608C>A (NPHP3) | ENSP00000508078.1:n.*608C>A | |
| ENST00000337331.10:c.2700C>A (NPHP3) MANE Select | ENSP00000338766.5:p.His900Gln | |
| ENST00000337331.9:c.2700C>A (NPHP3) | ENSP00000338766.5:p.His900Gln | |
| ENST00000465756.5:c.*608C>A (NPHP3) | ENSP00000419907.1:n.*608C>A | |
| ENST00000471702.2:c.*691C>A (NPHP3-ACAD11) | ENSP00000419763.1:n.*691C>A | |
| ENST00000474871.5:n.434C>A (NPHP3) | ||
| ENST00000490993.5:n.3425C>A (NPHP3) | ||
| NM_153240.4:c.2700C>A (NPHP3) | NP_694972.3:p.His900Gln | |
| NR_037804.1:n.2706C>A (NPHP3-ACAD11) | ||
| NM_153240.5:c.2700C>A (NPHP3) MANE Select | NP_694972.3:p.His900Gln |