Linked Data
ClinVar Variation Id:
1557582
ClinVar RCV Id:
RCV002195074
dbSNP Id:
rs1039675371
gnomAD v2:
3-160000396-T-C
gnomAD v3:
3-160282608-T-C
gnomAD v4:
3-160282608-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.160282608T>C , CM000665.2:g.160282608T>C | GRCh38 |
| NC_000003.11:g.160000396T>C , CM000665.1:g.160000396T>C | GRCh37 |
| NC_000003.10:g.161483090T>C | NCBI36 |
| NG_022932.1:g.121925A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000326448.12:c.1386A>G (IFT80) MANE Select | ENSP00000312778.7:p.Glu462= | |
| ENST00000326448.11:c.1386A>G (IFT80) | ENSP00000312778.7:p.Glu462= | |
| ENST00000483465.5:c.975A>G (IFT80) | ENSP00000418196.1:p.Glu325= | |
| ENST00000483754.1:c.1899A>G (TRIM59-IFT80) | ENSP00000456272.1:p.Glu633= | |
| ENST00000487943.5:n.2605A>G (IFT80) | ||
| ENST00000496589.5:c.975A>G (IFT80) | ENSP00000420646.1:p.Glu325= | |
| NM_001190241.1:c.975A>G (IFT80) | NP_001177170.1:p.Glu325= | |
| NM_001190242.1:c.975A>G (IFT80) | NP_001177171.1:p.Glu325= | |
| NM_020800.2:c.1386A>G (IFT80) | NP_065851.1:p.Glu462= | |
| XR_924138.1:n.2900-7064T>C (C3orf80) | ||
| NR_148401.1:n.2094A>G (TRIM59-IFT80) | ||
| NR_148402.1:n.3630A>G (TRIM59-IFT80) | ||
| NR_148403.1:n.3897A>G (TRIM59-IFT80) | ||
| NM_020800.3:c.1386A>G (IFT80) MANE Select | NP_065851.1:p.Glu462= | |
| NM_001190241.2:c.975A>G (IFT80) | NP_001177170.1:p.Glu325= | |
| NM_001190242.2:c.975A>G (IFT80) | NP_001177171.1:p.Glu325= |