Linked Data
ClinVar Variation Id:
291105
dbSNP Id:
rs202142404
ExAC:
3:132440967 C / A
gnomAD v2:
3-132440967-C-A
gnomAD v3:
3-132722123-C-A
gnomAD v4:
3-132722123-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.132722123C>A , CM000665.2:g.132722123C>A | GRCh38 |
| NC_000003.11:g.132440967C>A , CM000665.1:g.132440967C>A | GRCh37 |
| NC_000003.10:g.133923657C>A | NCBI36 |
| NG_008130.1:g.5310G>T | |
| NG_008130.2:g.5310G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000683570.1:c.233G>T (NPHP3) | ENSP00000508409.1:p.Gly78Val | |
| ENST00000684294.1:c.99+134G>T (NPHP3) | ENSP00000508078.1:n.99+134G>T | |
| ENST00000337331.10:c.233G>T (NPHP3) MANE Select | ENSP00000338766.5:p.Gly78Val | |
| ENST00000337331.9:c.233G>T (NPHP3) | ENSP00000338766.5:p.Gly78Val | |
| ENST00000383282.3:c.233G>T (NPHP3-ACAD11) | ENSP00000372769.2:p.Gly78Val | |
| ENST00000465756.5:c.99+134G>T (NPHP3) | ENSP00000419907.1:n.99+134G>T | |
| ENST00000471702.2:c.233G>T (NPHP3-ACAD11) | ENSP00000419763.1:p.Gly78Val | |
| NM_153240.4:c.233G>T (NPHP3) | NP_694972.3:p.Gly78Val | |
| NR_037804.1:n.337G>T (NPHP3-ACAD11) | ||
| NR_002811.2:n.374C>A (NPHP3-AS1) | ||
| NR_152743.1:n.374C>A (NPHP3-AS1) | ||
| NM_153240.5:c.233G>T (NPHP3) MANE Select | NP_694972.3:p.Gly78Val |