Linked Data
dbSNP Id:
rs576555611
ExAC:
3:160000389 C / T
gnomAD v2:
3-160000389-C-T
gnomAD v3:
3-160282601-C-T
gnomAD v4:
3-160282601-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.160282601C>T , CM000665.2:g.160282601C>T | GRCh38 |
| NC_000003.11:g.160000389C>T , CM000665.1:g.160000389C>T | GRCh37 |
| NC_000003.10:g.161483083C>T | NCBI36 |
| NG_022932.1:g.121932G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000326448.12:c.1393G>A (IFT80) MANE Select | ENSP00000312778.7:p.Glu465Lys | |
| ENST00000326448.11:c.1393G>A (IFT80) | ENSP00000312778.7:p.Glu465Lys | |
| ENST00000483465.5:c.982G>A (IFT80) | ENSP00000418196.1:p.Glu328Lys | |
| ENST00000483754.1:c.1906G>A (TRIM59-IFT80) | ENSP00000456272.1:p.Glu636Lys | |
| ENST00000487943.5:n.2612G>A (IFT80) | ||
| ENST00000496589.5:c.982G>A (IFT80) | ENSP00000420646.1:p.Glu328Lys | |
| NM_001190241.1:c.982G>A (IFT80) | NP_001177170.1:p.Glu328Lys | |
| NM_001190242.1:c.982G>A (IFT80) | NP_001177171.1:p.Glu328Lys | |
| NM_020800.2:c.1393G>A (IFT80) | NP_065851.1:p.Glu465Lys | |
| XR_924138.1:n.2900-7071C>T (C3orf80) | ||
| NR_148401.1:n.2101G>A (TRIM59-IFT80) | ||
| NR_148402.1:n.3637G>A (TRIM59-IFT80) | ||
| NR_148403.1:n.3904G>A (TRIM59-IFT80) | ||
| NM_020800.3:c.1393G>A (IFT80) MANE Select | NP_065851.1:p.Glu465Lys | |
| NM_001190241.2:c.982G>A (IFT80) | NP_001177170.1:p.Glu328Lys | |
| NM_001190242.2:c.982G>A (IFT80) | NP_001177171.1:p.Glu328Lys |