Linked Data
ClinVar Variation Id:
137083
dbSNP Id:
rs4777
ExAC:
2:74185876 A / T
gnomAD v2:
2-74185876-A-T
gnomAD v3:
2-73958749-A-T
gnomAD v4:
2-73958749-A-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.73958749A>T , CM000664.2:g.73958749A>T | GRCh38 |
| NC_000002.11:g.74185876A>T , CM000664.1:g.74185876A>T | GRCh37 |
| NC_000002.10:g.74039384A>T | NCBI36 |
| NG_008044.1:g.36924A>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000264093.9:c.*13A>T (DGUOK) MANE Select | ENSP00000264093.4:n.*13A>T | |
| ENST00000264093.8:c.*13A>T (DGUOK) | ENSP00000264093.4:n.*13A>T | |
| ENST00000348222.3:c.*13A>T (DGUOK) | ENSP00000306964.3:n.*13A>T | |
| ENST00000418996.5:c.*200A>T (DGUOK) | ENSP00000408209.1:n.*200A>T | |
| ENST00000462685.1:n.676A>T (DGUOK) | ||
| ENST00000629438.2:c.*464A>T (DGUOK) | ENSP00000487122.1:n.*464A>T | |
| NM_080916.2:c.*13A>T (DGUOK) | NP_550438.1:n.*13A>T | |
| NM_080918.2:c.*13A>T (DGUOK) | NP_550440.1:n.*13A>T | |
| NR_104029.1:n.332-542T>A (DGUOK-AS1) | ||
| NR_104030.1:n.306-542T>A (DGUOK-AS1) | ||
| XM_005264173.2:c.*13A>T (DGUOK) | XP_005264230.1:n.*13A>T | |
| XM_005264174.1:c.*13A>T (DGUOK) | XP_005264231.1:n.*13A>T | |
| XM_011532647.1:c.*13A>T (DGUOK) | XP_011530949.1:n.*13A>T | |
| XM_011532648.1:c.*13A>T (DGUOK) | XP_011530950.1:n.*13A>T | |
| XR_244926.2:n.812A>T (DGUOK) | ||
| NM_001318859.1:c.*13A>T (DGUOK) | NP_001305788.1:n.*13A>T | |
| NM_001318860.1:c.*13A>T (DGUOK) | NP_001305789.1:n.*13A>T | |
| NM_001318861.1:c.*13A>T (DGUOK) | NP_001305790.1:n.*13A>T | |
| NM_001318862.1:c.*13A>T (DGUOK) | NP_001305791.1:n.*13A>T | |
| NM_001318863.1:c.*13A>T (DGUOK) | NP_001305792.1:n.*13A>T | |
| NR_134893.1:n.555A>T (DGUOK) | ||
| NR_134894.1:n.703A>T (DGUOK) | ||
| NR_134895.1:n.367A>T (DGUOK) | ||
| NR_134896.1:n.537A>T (DGUOK) | ||
| NR_134897.1:n.747A>T (DGUOK) | ||
| NR_134898.1:n.671A>T (DGUOK) | ||
| XM_011532647.2:c.*13A>T (DGUOK) | XP_011530949.1:n.*13A>T | |
| XM_024452739.1:c.*13A>T (DGUOK) | XP_024308507.1:n.*13A>T | |
| XR_001738656.1:n.783A>T (DGUOK) | ||
| XR_244926.3:n.814A>T (DGUOK) | ||
| NM_080916.3:c.*13A>T (DGUOK) MANE Select | NP_550438.1:n.*13A>T | |
| NM_001318859.2:c.*13A>T (DGUOK) | NP_001305788.1:n.*13A>T | |
| NM_001318860.2:c.*13A>T (DGUOK) | NP_001305789.1:n.*13A>T | |
| NM_001318861.2:c.*13A>T (DGUOK) | NP_001305790.1:n.*13A>T | |
| NM_001318862.2:c.*13A>T (DGUOK) | NP_001305791.1:n.*13A>T | |
| NM_001318863.2:c.*13A>T (DGUOK) | NP_001305792.1:n.*13A>T | |
| NM_080918.3:c.*13A>T (DGUOK) | NP_550440.1:n.*13A>T | |
| NR_134893.2:n.501A>T (DGUOK) | ||
| NR_134894.2:n.649A>T (DGUOK) | ||
| NR_134895.2:n.313A>T (DGUOK) | ||
| NR_134896.2:n.483A>T (DGUOK) | ||
| NR_134897.2:n.693A>T (DGUOK) | ||
| NR_134898.2:n.617A>T (DGUOK) |