Linked Data
ClinVar Variation Id:
224989
dbSNP Id:
rs869312915
gnomAD v2:
3-132418262-A-C
gnomAD v3:
3-132699418-A-C
gnomAD v4:
3-132699418-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.132699418A>C , CM000665.2:g.132699418A>C | GRCh38 |
| NC_000003.11:g.132418262A>C , CM000665.1:g.132418262A>C | GRCh37 |
| NC_000003.10:g.133900952A>C | NCBI36 |
| NG_008130.1:g.28015T>G | |
| NG_008130.2:g.28015T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000684294.1:c.1593+500T>G (NPHP3) | ENSP00000508078.1:n.1593+500T>G | |
| ENST00000337331.10:c.1920T>G (NPHP3) MANE Select | ENSP00000338766.5:p.Asp640Glu | |
| ENST00000337331.9:c.1920T>G (NPHP3) | ENSP00000338766.5:p.Asp640Glu | |
| ENST00000465756.5:c.1593+500T>G (NPHP3) | ENSP00000419907.1:n.1593+500T>G | |
| ENST00000471702.2:c.1887+500T>G (NPHP3-ACAD11) | ENSP00000419763.1:n.1887+500T>G | |
| ENST00000490993.5:n.1663+500T>G (NPHP3) | ||
| NM_153240.4:c.1920T>G (NPHP3) | NP_694972.3:p.Asp640Glu | |
| NR_037804.1:n.1991+500T>G (NPHP3-ACAD11) | ||
| NM_153240.5:c.1920T>G (NPHP3) MANE Select | NP_694972.3:p.Asp640Glu |