Linked Data
ClinVar Variation Id:
8159
ClinVar RCV Id:
RCV000008637
dbSNP Id:
rs104893633
gnomAD v4:
2-73958201-G-T
PubMed:
PMID:15887277
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.73958201G>T , CM000664.2:g.73958201G>T | GRCh38 |
| NC_000002.11:g.74185328G>T , CM000664.1:g.74185328G>T | GRCh37 |
| NC_000002.10:g.74038836G>T | NCBI36 |
| NG_008044.1:g.36376G>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000264093.9:c.763G>T (DGUOK) MANE Select | ENSP00000264093.4:p.Asp255Tyr | |
| ENST00000264093.8:c.763G>T (DGUOK) | ENSP00000264093.4:p.Asp255Tyr | |
| ENST00000348222.3:c.499G>T (DGUOK) | ENSP00000306964.3:p.Asp167Tyr | |
| ENST00000418996.5:c.*116G>T (DGUOK) | ENSP00000408209.1:n.*116G>T | |
| ENST00000462685.1:n.592G>T (DGUOK) | ||
| ENST00000489796.5:n.648G>T (DGUOK) | ||
| ENST00000629438.2:c.*380G>T (DGUOK) | ENSP00000487122.1:n.*380G>T | |
| NM_080916.2:c.763G>T (DGUOK) | NP_550438.1:p.Asp255Tyr | |
| NM_080918.2:c.499G>T (DGUOK) | NP_550440.1:p.Asp167Tyr | |
| NR_104029.1:n.338C>A (DGUOK-AS1) | ||
| NR_104030.1:n.312C>A (DGUOK-AS1) | ||
| XM_005264173.2:c.472G>T (DGUOK) | XP_005264230.1:p.Asp158Tyr | |
| XM_005264174.1:c.472G>T (DGUOK) | XP_005264231.1:p.Asp158Tyr | |
| XM_011532647.1:c.745G>T (DGUOK) | XP_011530949.1:p.Asp249Tyr | |
| XM_011532648.1:c.454G>T (DGUOK) | XP_011530950.1:p.Asp152Tyr | |
| XR_244926.2:n.728G>T (DGUOK) | ||
| NM_001318859.1:c.481G>T (DGUOK) | NP_001305788.1:p.Asp161Tyr | |
| NM_001318860.1:c.472G>T (DGUOK) | NP_001305789.1:p.Asp158Tyr | |
| NM_001318861.1:c.472G>T (DGUOK) | NP_001305790.1:p.Asp158Tyr | |
| NM_001318862.1:c.454G>T (DGUOK) | NP_001305791.1:p.Asp152Tyr | |
| NM_001318863.1:c.454G>T (DGUOK) | NP_001305792.1:p.Asp152Tyr | |
| NR_134893.1:n.471G>T (DGUOK) | ||
| NR_134894.1:n.619G>T (DGUOK) | ||
| NR_134895.1:n.283G>T (DGUOK) | ||
| NR_134896.1:n.453G>T (DGUOK) | ||
| NR_134897.1:n.663G>T (DGUOK) | ||
| NR_134898.1:n.587G>T (DGUOK) | ||
| XM_011532647.2:c.745G>T (DGUOK) | XP_011530949.1:p.Asp249Tyr | |
| XM_024452739.1:c.472G>T (DGUOK) | XP_024308507.1:p.Asp158Tyr | |
| XR_001738656.1:n.699G>T (DGUOK) | ||
| XR_244926.3:n.730G>T (DGUOK) | ||
| NM_080916.3:c.763G>T (DGUOK) MANE Select | NP_550438.1:p.Asp255Tyr | |
| NM_001318859.2:c.481G>T (DGUOK) | NP_001305788.1:p.Asp161Tyr | |
| NM_001318860.2:c.472G>T (DGUOK) | NP_001305789.1:p.Asp158Tyr | |
| NM_001318861.2:c.472G>T (DGUOK) | NP_001305790.1:p.Asp158Tyr | |
| NM_001318862.2:c.454G>T (DGUOK) | NP_001305791.1:p.Asp152Tyr | |
| NM_001318863.2:c.454G>T (DGUOK) | NP_001305792.1:p.Asp152Tyr | |
| NM_080918.3:c.499G>T (DGUOK) | NP_550440.1:p.Asp167Tyr | |
| NR_134893.2:n.417G>T (DGUOK) | ||
| NR_134894.2:n.565G>T (DGUOK) | ||
| NR_134895.2:n.229G>T (DGUOK) | ||
| NR_134896.2:n.399G>T (DGUOK) | ||
| NR_134897.2:n.609G>T (DGUOK) | ||
| NR_134898.2:n.533G>T (DGUOK) |