Linked Data
ClinVar Variation Id:
430726
dbSNP Id:
rs771742823
ExAC:
3:132438644 G / A
gnomAD v2:
3-132438644-G-A
gnomAD v3:
3-132719800-G-A
gnomAD v4:
3-132719800-G-A
PubMed:
PMID:28921755
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.132719800G>A , CM000665.2:g.132719800G>A | GRCh38 |
| NC_000003.11:g.132438644G>A , CM000665.1:g.132438644G>A | GRCh37 |
| NC_000003.10:g.133921334G>A | NCBI36 |
| NG_008130.1:g.7633C>T | |
| NG_008130.2:g.7633C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000684294.1:c.130C>T (NPHP3) | ENSP00000508078.1:p.Arg44Ter | |
| ENST00000684756.1:n.147C>T (NPHP3) | ||
| ENST00000337331.10:c.424C>T (NPHP3) MANE Select | ENSP00000338766.5:p.Arg142Ter | |
| ENST00000337331.9:c.424C>T (NPHP3) | ENSP00000338766.5:p.Arg142Ter | |
| ENST00000465756.5:c.130C>T (NPHP3) | ENSP00000419907.1:p.Arg44Ter | |
| ENST00000469232.5:c.76C>T (NPHP3) | ENSP00000418664.1:p.Arg26Ter | |
| ENST00000471145.1:n.64C>T (NPHP3) | ||
| ENST00000471702.2:c.424C>T (NPHP3-ACAD11) | ENSP00000419763.1:p.Arg142Ter | |
| NM_153240.4:c.424C>T (NPHP3) | NP_694972.3:p.Arg142Ter | |
| NR_037804.1:n.528C>T (NPHP3-ACAD11) | ||
| NM_153240.5:c.424C>T (NPHP3) MANE Select | NP_694972.3:p.Arg142Ter |