Linked Data
ClinVar Variation Id:
501346
dbSNP Id:
rs747847543
ExAC:
3:132402330 A / G
gnomAD v2:
3-132402330-A-G
gnomAD v3:
3-132683486-A-G
gnomAD v4:
3-132683486-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.132683486A>G , CM000665.2:g.132683486A>G | GRCh38 |
| NC_000003.11:g.132402330A>G , CM000665.1:g.132402330A>G | GRCh37 |
| NC_000003.10:g.133885020A>G | NCBI36 |
| NG_008130.1:g.43947T>C | |
| NG_008130.2:g.43947T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000684294.1:c.*1537T>C (NPHP3) | ENSP00000508078.1:n.*1537T>C | |
| ENST00000337331.10:c.3609T>C (NPHP3) MANE Select | ENSP00000338766.5:p.Ala1203= | |
| ENST00000337331.9:c.3609T>C (NPHP3) | ENSP00000338766.5:p.Ala1203= | |
| ENST00000465756.5:c.*1517T>C (NPHP3) | ENSP00000419907.1:n.*1517T>C | |
| ENST00000471702.2:c.*1600T>C (NPHP3-ACAD11) | ENSP00000419763.1:n.*1600T>C | |
| ENST00000474871.5:n.2808T>C (NPHP3) | ||
| ENST00000490993.5:n.4334T>C (NPHP3) | ||
| ENST00000493732.5:n.309T>C (NPHP3) | ||
| ENST00000512094.5:c.171T>C (NPHP3) | ENSP00000427666.1:p.Ala57= | |
| ENST00000632629.1:c.256T>C (NPHP3-ACAD11) | ||
| NM_153240.4:c.3609T>C (NPHP3) | NP_694972.3:p.Ala1203= | |
| NR_037804.1:n.3615T>C (NPHP3-ACAD11) | ||
| NM_153240.5:c.3609T>C (NPHP3) MANE Select | NP_694972.3:p.Ala1203= |