Linked Data
ClinVar Variation Id:
2634
dbSNP Id:
rs119456961
ExAC:
3:132423185 C / A
gnomAD v2:
3-132423185-C-A
gnomAD v4:
3-132704341-C-A
PubMed:
PMID:12872122
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.132704341C>A , CM000665.2:g.132704341C>A | GRCh38 |
| NC_000003.11:g.132423185C>A , CM000665.1:g.132423185C>A | GRCh37 |
| NC_000003.10:g.133905875C>A | NCBI36 |
| NG_008130.1:g.23092G>T | |
| NG_008130.2:g.23092G>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000684294.1:c.1087G>T (NPHP3) | ENSP00000508078.1:p.Glu363Ter | |
| ENST00000337331.10:c.1381G>T (NPHP3) MANE Select | ENSP00000338766.5:p.Glu461Ter | |
| ENST00000337331.9:c.1381G>T (NPHP3) | ENSP00000338766.5:p.Glu461Ter | |
| ENST00000465756.5:c.1087G>T (NPHP3) | ENSP00000419907.1:p.Glu363Ter | |
| ENST00000469232.5:c.1196G>T (NPHP3) | ENSP00000418664.1:n.1196G>T | |
| ENST00000471702.2:c.1381G>T (NPHP3-ACAD11) | ENSP00000419763.1:p.Glu461Ter | |
| ENST00000490993.5:n.1157G>T (NPHP3) | ||
| NM_153240.4:c.1381G>T (NPHP3) | NP_694972.3:p.Glu461Ter | |
| NR_037804.1:n.1485G>T (NPHP3-ACAD11) | ||
| NM_153240.5:c.1381G>T (NPHP3) MANE Select | NP_694972.3:p.Glu461Ter |