Linked Data
ClinVar Variation Id:
1902252
ClinVar RCV Id:
RCV002580143
dbSNP Id:
rs201918369
ExAC:
3:132407978 G / A
gnomAD v2:
3-132407978-G-A
gnomAD v3:
3-132689134-G-A
gnomAD v4:
3-132689134-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.132689134G>A , CM000665.2:g.132689134G>A | GRCh38 |
| NC_000003.11:g.132407978G>A , CM000665.1:g.132407978G>A | GRCh37 |
| NC_000003.10:g.133890668G>A | NCBI36 |
| NG_008130.1:g.38299C>T | |
| NG_008130.2:g.38299C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000684294.1:c.*731C>T (NPHP3) | ENSP00000508078.1:n.*731C>T | |
| ENST00000337331.10:c.2823C>T (NPHP3) MANE Select | ENSP00000338766.5:p.Cys941= | |
| ENST00000337331.9:c.2823C>T (NPHP3) | ENSP00000338766.5:p.Cys941= | |
| ENST00000465756.5:c.*731C>T (NPHP3) | ENSP00000419907.1:n.*731C>T | |
| ENST00000471702.2:c.*814C>T (NPHP3-ACAD11) | ENSP00000419763.1:n.*814C>T | |
| ENST00000474871.5:n.557C>T (NPHP3) | ||
| ENST00000490993.5:n.3548C>T (NPHP3) | ||
| NM_153240.4:c.2823C>T (NPHP3) | NP_694972.3:p.Cys941= | |
| NR_037804.1:n.2829C>T (NPHP3-ACAD11) | ||
| NM_153240.5:c.2823C>T (NPHP3) MANE Select | NP_694972.3:p.Cys941= |