Linked Data
ClinVar Variation Id:
262701
dbSNP Id:
rs112300370
ExAC:
3:132407526 T / C
gnomAD v2:
3-132407526-T-C
gnomAD v3:
3-132688682-T-C
gnomAD v4:
3-132688682-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.132688682T>C , CM000665.2:g.132688682T>C | GRCh38 |
| NC_000003.11:g.132407526T>C , CM000665.1:g.132407526T>C | GRCh37 |
| NC_000003.10:g.133890216T>C | NCBI36 |
| NG_008130.1:g.38751A>G | |
| NG_008130.2:g.38751A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000684294.1:c.*1001A>G (NPHP3) | ENSP00000508078.1:n.*1001A>G | |
| ENST00000337331.10:c.3093A>G (NPHP3) MANE Select | ENSP00000338766.5:p.Glu1031= | |
| ENST00000337331.9:c.3093A>G (NPHP3) | ENSP00000338766.5:p.Glu1031= | |
| ENST00000465756.5:c.*1001A>G (NPHP3) | ENSP00000419907.1:n.*1001A>G | |
| ENST00000471702.2:c.*1084A>G (NPHP3-ACAD11) | ENSP00000419763.1:n.*1084A>G | |
| ENST00000474871.5:n.827A>G (NPHP3) | ||
| ENST00000490993.5:n.3818A>G (NPHP3) | ||
| NM_153240.4:c.3093A>G (NPHP3) | NP_694972.3:p.Glu1031= | |
| NR_037804.1:n.3099A>G (NPHP3-ACAD11) | ||
| NM_153240.5:c.3093A>G (NPHP3) MANE Select | NP_694972.3:p.Glu1031= |