Linked Data
ClinVar Variation Id:
1400848
ClinVar RCV Id:
RCV001932832
dbSNP Id:
rs757710406
ExAC:
3:132403616 G / A
gnomAD v2:
3-132403616-G-A
gnomAD v3:
3-132684772-G-A
gnomAD v4:
3-132684772-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.132684772G>A , CM000665.2:g.132684772G>A | GRCh38 |
| NC_000003.11:g.132403616G>A , CM000665.1:g.132403616G>A | GRCh37 |
| NC_000003.10:g.133886306G>A | NCBI36 |
| NG_008130.1:g.42661C>T | |
| NG_008130.2:g.42661C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000684294.1:c.*1260C>T (NPHP3) | ENSP00000508078.1:n.*1260C>T | |
| ENST00000337331.10:c.3352C>T (NPHP3) MANE Select | ENSP00000338766.5:p.Arg1118Cys | |
| ENST00000337331.9:c.3352C>T (NPHP3) | ENSP00000338766.5:p.Arg1118Cys | |
| ENST00000465756.5:c.*1260C>T (NPHP3) | ENSP00000419907.1:n.*1260C>T | |
| ENST00000471702.2:c.*1343C>T (NPHP3-ACAD11) | ENSP00000419763.1:n.*1343C>T | |
| ENST00000474871.5:n.2551C>T (NPHP3) | ||
| ENST00000490993.5:n.4077C>T (NPHP3) | ||
| ENST00000493732.5:n.52C>T (NPHP3) | ||
| NM_153240.4:c.3352C>T (NPHP3) | NP_694972.3:p.Arg1118Cys | |
| NR_037804.1:n.3358C>T (NPHP3-ACAD11) | ||
| NM_153240.5:c.3352C>T (NPHP3) MANE Select | NP_694972.3:p.Arg1118Cys |