Linked Data
ClinVar Variation Id:
288174
dbSNP Id:
rs202048210
ExAC:
3:132402277 G / A
gnomAD v2:
3-132402277-G-A
gnomAD v3:
3-132683433-G-A
gnomAD v4:
3-132683433-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.132683433G>A , CM000665.2:g.132683433G>A | GRCh38 |
| NC_000003.11:g.132402277G>A , CM000665.1:g.132402277G>A | GRCh37 |
| NC_000003.10:g.133884967G>A | NCBI36 |
| NG_008130.1:g.44000C>T | |
| NG_008130.2:g.44000C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000684294.1:c.*1590C>T (NPHP3) | ENSP00000508078.1:n.*1590C>T | |
| ENST00000337331.10:c.3662C>T (NPHP3) MANE Select | ENSP00000338766.5:p.Ala1221Val | |
| ENST00000337331.9:c.3662C>T (NPHP3) | ENSP00000338766.5:p.Ala1221Val | |
| ENST00000465756.5:c.*1570C>T (NPHP3) | ENSP00000419907.1:n.*1570C>T | |
| ENST00000471702.2:c.*1653C>T (NPHP3-ACAD11) | ENSP00000419763.1:n.*1653C>T | |
| ENST00000474871.5:n.2861C>T (NPHP3) | ||
| ENST00000490993.5:n.4387C>T (NPHP3) | ||
| ENST00000493732.5:n.362C>T (NPHP3) | ||
| ENST00000512094.5:c.224C>T (NPHP3) | ENSP00000427666.1:p.Ala75Val | |
| ENST00000632629.1:c.309C>T (NPHP3-ACAD11) | ||
| NM_153240.4:c.3662C>T (NPHP3) | NP_694972.3:p.Ala1221Val | |
| NR_037804.1:n.3668C>T (NPHP3-ACAD11) | ||
| NM_153240.5:c.3662C>T (NPHP3) MANE Select | NP_694972.3:p.Ala1221Val |