Linked Data
ClinVar Variation Id:
2640
dbSNP Id:
rs267606916
ExAC:
3:132415642 G / A
gnomAD v2:
3-132415642-G-A
gnomAD v3:
3-132696798-G-A
gnomAD v4:
3-132696798-G-A
COSMIC:
COSM3122114
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.132696798G>A , CM000665.2:g.132696798G>A | GRCh38 |
| NC_000003.11:g.132415642G>A , CM000665.1:g.132415642G>A | GRCh37 |
| NC_000003.10:g.133898332G>A | NCBI36 |
| NG_008130.1:g.30635C>T | |
| NG_008130.2:g.30635C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000684294.1:c.*79+462C>T (NPHP3) | ENSP00000508078.1:n.*79+462C>T | |
| ENST00000337331.10:c.2104C>T (NPHP3) MANE Select | ENSP00000338766.5:p.Arg702Ter | |
| ENST00000337331.9:c.2104C>T (NPHP3) | ENSP00000338766.5:p.Arg702Ter | |
| ENST00000465756.5:c.*79+462C>T (NPHP3) | ENSP00000419907.1:n.*79+462C>T | |
| ENST00000471702.2:c.*95C>T (NPHP3-ACAD11) | ENSP00000419763.1:n.*95C>T | |
| ENST00000490993.5:n.1782C>T (NPHP3) | ||
| NM_153240.4:c.2104C>T (NPHP3) | NP_694972.3:p.Arg702Ter | |
| NR_037804.1:n.2110C>T (NPHP3-ACAD11) | ||
| NM_153240.5:c.2104C>T (NPHP3) MANE Select | NP_694972.3:p.Arg702Ter |