Linked Data
ClinVar Variation Id:
216011
ClinVar RCV Id:
RCV000197404
dbSNP Id:
rs758498695
gnomAD v2:
3-132432100-C-T
gnomAD v4:
3-132713256-C-T
COSMIC:
COSM3846252
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.132713256C>T , CM000665.2:g.132713256C>T | GRCh38 |
| NC_000003.11:g.132432100C>T , CM000665.1:g.132432100C>T | GRCh37 |
| NC_000003.10:g.133914790C>T | NCBI36 |
| NG_008130.1:g.14177G>A | |
| NG_008130.2:g.14177G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000684294.1:c.694G>A (NPHP3) | ENSP00000508078.1:p.Glu232Lys | |
| ENST00000337331.10:c.988G>A (NPHP3) MANE Select | ENSP00000338766.5:p.Glu330Lys | |
| ENST00000337331.9:c.988G>A (NPHP3) | ENSP00000338766.5:p.Glu330Lys | |
| ENST00000465756.5:c.694G>A (NPHP3) | ENSP00000419907.1:p.Glu232Lys | |
| ENST00000469232.5:c.803G>A (NPHP3) | ENSP00000418664.1:n.803G>A | |
| ENST00000471702.2:c.988G>A (NPHP3-ACAD11) | ENSP00000419763.1:p.Glu330Lys | |
| ENST00000476742.1:n.222G>A (NPHP3) | ||
| ENST00000490993.5:n.764G>A (NPHP3) | ||
| NM_153240.4:c.988G>A (NPHP3) | NP_694972.3:p.Glu330Lys | |
| NR_037804.1:n.1092G>A (NPHP3-ACAD11) | ||
| NM_153240.5:c.988G>A (NPHP3) MANE Select | NP_694972.3:p.Glu330Lys |