Linked Data
ClinVar Variation Id:
406217
dbSNP Id:
rs140202230
ExAC:
3:160021761 T / C
gnomAD v2:
3-160021761-T-C
gnomAD v3:
3-160303973-T-C
gnomAD v4:
3-160303973-T-C
PubMed:
PMID:29068549
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.160303973T>C , CM000665.2:g.160303973T>C | GRCh38 |
| NC_000003.11:g.160021761T>C , CM000665.1:g.160021761T>C | GRCh37 |
| NC_000003.10:g.161504455T>C | NCBI36 |
| NG_022932.1:g.100560A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000326448.12:c.1093A>G (IFT80) MANE Select | ENSP00000312778.7:p.Thr365Ala | |
| ENST00000326448.11:c.1093A>G (IFT80) | ENSP00000312778.7:p.Thr365Ala | |
| ENST00000461213.1:n.524A>G (IFT80) | ||
| ENST00000472555.5:c.630A>G (IFT80) | ||
| ENST00000483325.1:c.136A>G (IFT80) | ENSP00000417552.1:p.Thr46Ala | |
| ENST00000483465.5:c.682A>G (IFT80) | ENSP00000418196.1:p.Thr228Ala | |
| ENST00000483754.1:c.1606A>G (TRIM59-IFT80) | ENSP00000456272.1:p.Thr536Ala | |
| ENST00000487943.5:n.2312A>G (IFT80) | ||
| ENST00000496589.5:c.682A>G (IFT80) | ENSP00000420646.1:p.Thr228Ala | |
| NM_001190241.1:c.682A>G (IFT80) | NP_001177170.1:p.Thr228Ala | |
| NM_001190242.1:c.682A>G (IFT80) | NP_001177171.1:p.Thr228Ala | |
| NM_020800.2:c.1093A>G (IFT80) | NP_065851.1:p.Thr365Ala | |
| NR_148401.1:n.1801A>G (TRIM59-IFT80) | ||
| NR_148402.1:n.3337A>G (TRIM59-IFT80) | ||
| NR_148403.1:n.3604A>G (TRIM59-IFT80) | ||
| NM_020800.3:c.1093A>G (IFT80) MANE Select | NP_065851.1:p.Thr365Ala | |
| NM_001190241.2:c.682A>G (IFT80) | NP_001177170.1:p.Thr228Ala | |
| NM_001190242.2:c.682A>G (IFT80) | NP_001177171.1:p.Thr228Ala |