Linked Data
ClinVar Variation Id:
500849
dbSNP Id:
rs139351534
ExAC:
3:132405163 A / C
gnomAD v2:
3-132405163-A-C
gnomAD v3:
3-132686319-A-C
gnomAD v4:
3-132686319-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.132686319A>C , CM000665.2:g.132686319A>C | GRCh38 |
| NC_000003.11:g.132405163A>C , CM000665.1:g.132405163A>C | GRCh37 |
| NC_000003.10:g.133887853A>C | NCBI36 |
| NG_008130.1:g.41114T>G | |
| NG_008130.2:g.41114T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000684294.1:c.*1178T>G (NPHP3) | ENSP00000508078.1:n.*1178T>G | |
| ENST00000337331.10:c.3270T>G (NPHP3) MANE Select | ENSP00000338766.5:p.Pro1090= | |
| ENST00000337331.9:c.3270T>G (NPHP3) | ENSP00000338766.5:p.Pro1090= | |
| ENST00000465756.5:c.*1178T>G (NPHP3) | ENSP00000419907.1:n.*1178T>G | |
| ENST00000471702.2:c.*1261T>G (NPHP3-ACAD11) | ENSP00000419763.1:n.*1261T>G | |
| ENST00000474871.5:n.1004T>G (NPHP3) | ||
| ENST00000490993.5:n.3995T>G (NPHP3) | ||
| NM_153240.4:c.3270T>G (NPHP3) | NP_694972.3:p.Pro1090= | |
| NR_037804.1:n.3276T>G (NPHP3-ACAD11) | ||
| NM_153240.5:c.3270T>G (NPHP3) MANE Select | NP_694972.3:p.Pro1090= |