Linked Data
ClinVar Variation Id:
253063
dbSNP Id:
rs886037846
gnomAD v4:
2-73958235-T-G
PubMed:
PMID:17073823
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.73958235T>G , CM000664.2:g.73958235T>G | GRCh38 |
| NC_000002.11:g.74185362T>G , CM000664.1:g.74185362T>G | GRCh37 |
| NC_000002.10:g.74038870T>G | NCBI36 |
| NG_008044.1:g.36410T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000264093.9:c.797T>G (DGUOK) MANE Select | ENSP00000264093.4:p.Leu266Arg | |
| ENST00000264093.8:c.797T>G (DGUOK) | ENSP00000264093.4:p.Leu266Arg | |
| ENST00000348222.3:c.533T>G (DGUOK) | ENSP00000306964.3:p.Leu178Arg | |
| ENST00000418996.5:c.*150T>G (DGUOK) | ENSP00000408209.1:n.*150T>G | |
| ENST00000462685.1:n.626T>G (DGUOK) | ||
| ENST00000489796.5:n.682T>G (DGUOK) | ||
| ENST00000629438.2:c.*414T>G (DGUOK) | ENSP00000487122.1:n.*414T>G | |
| NM_080916.2:c.797T>G (DGUOK) | NP_550438.1:p.Leu266Arg | |
| NM_080918.2:c.533T>G (DGUOK) | NP_550440.1:p.Leu178Arg | |
| NR_104029.1:n.332-28A>C (DGUOK-AS1) | ||
| NR_104030.1:n.306-28A>C (DGUOK-AS1) | ||
| XM_005264173.2:c.506T>G (DGUOK) | XP_005264230.1:p.Leu169Arg | |
| XM_005264174.1:c.506T>G (DGUOK) | XP_005264231.1:p.Leu169Arg | |
| XM_011532647.1:c.779T>G (DGUOK) | XP_011530949.1:p.Leu260Arg | |
| XM_011532648.1:c.488T>G (DGUOK) | XP_011530950.1:p.Leu163Arg | |
| XR_244926.2:n.762T>G (DGUOK) | ||
| NM_001318859.1:c.515T>G (DGUOK) | NP_001305788.1:p.Leu172Arg | |
| NM_001318860.1:c.506T>G (DGUOK) | NP_001305789.1:p.Leu169Arg | |
| NM_001318861.1:c.506T>G (DGUOK) | NP_001305790.1:p.Leu169Arg | |
| NM_001318862.1:c.488T>G (DGUOK) | NP_001305791.1:p.Leu163Arg | |
| NM_001318863.1:c.488T>G (DGUOK) | NP_001305792.1:p.Leu163Arg | |
| NR_134893.1:n.505T>G (DGUOK) | ||
| NR_134894.1:n.653T>G (DGUOK) | ||
| NR_134895.1:n.317T>G (DGUOK) | ||
| NR_134896.1:n.487T>G (DGUOK) | ||
| NR_134897.1:n.697T>G (DGUOK) | ||
| NR_134898.1:n.621T>G (DGUOK) | ||
| XM_011532647.2:c.779T>G (DGUOK) | XP_011530949.1:p.Leu260Arg | |
| XM_024452739.1:c.506T>G (DGUOK) | XP_024308507.1:p.Leu169Arg | |
| XR_001738656.1:n.733T>G (DGUOK) | ||
| XR_244926.3:n.764T>G (DGUOK) | ||
| NM_080916.3:c.797T>G (DGUOK) MANE Select | NP_550438.1:p.Leu266Arg | |
| NM_001318859.2:c.515T>G (DGUOK) | NP_001305788.1:p.Leu172Arg | |
| NM_001318860.2:c.506T>G (DGUOK) | NP_001305789.1:p.Leu169Arg | |
| NM_001318861.2:c.506T>G (DGUOK) | NP_001305790.1:p.Leu169Arg | |
| NM_001318862.2:c.488T>G (DGUOK) | NP_001305791.1:p.Leu163Arg | |
| NM_001318863.2:c.488T>G (DGUOK) | NP_001305792.1:p.Leu163Arg | |
| NM_080918.3:c.533T>G (DGUOK) | NP_550440.1:p.Leu178Arg | |
| NR_134893.2:n.451T>G (DGUOK) | ||
| NR_134894.2:n.599T>G (DGUOK) | ||
| NR_134895.2:n.263T>G (DGUOK) | ||
| NR_134896.2:n.433T>G (DGUOK) | ||
| NR_134897.2:n.643T>G (DGUOK) | ||
| NR_134898.2:n.567T>G (DGUOK) |