Linked Data
ClinVar Variation Id:
1430616
ClinVar RCV Id:
RCV001952485
dbSNP Id:
rs745732447
ExAC:
2:74185357 A / C
gnomAD v2:
2-74185357-A-C
gnomAD v3:
2-73958230-A-C
gnomAD v4:
2-73958230-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.73958230A>C , CM000664.2:g.73958230A>C | GRCh38 |
| NC_000002.11:g.74185357A>C , CM000664.1:g.74185357A>C | GRCh37 |
| NC_000002.10:g.74038865A>C | NCBI36 |
| NG_008044.1:g.36405A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000264093.9:c.792A>C (DGUOK) MANE Select | ENSP00000264093.4:p.Glu264Asp | |
| ENST00000264093.8:c.792A>C (DGUOK) | ENSP00000264093.4:p.Glu264Asp | |
| ENST00000348222.3:c.528A>C (DGUOK) | ENSP00000306964.3:p.Glu176Asp | |
| ENST00000418996.5:c.*145A>C (DGUOK) | ENSP00000408209.1:n.*145A>C | |
| ENST00000462685.1:n.621A>C (DGUOK) | ||
| ENST00000489796.5:n.677A>C (DGUOK) | ||
| ENST00000629438.2:c.*409A>C (DGUOK) | ENSP00000487122.1:n.*409A>C | |
| NM_080916.2:c.792A>C (DGUOK) | NP_550438.1:p.Glu264Asp | |
| NM_080918.2:c.528A>C (DGUOK) | NP_550440.1:p.Glu176Asp | |
| NR_104029.1:n.332-23T>G (DGUOK-AS1) | ||
| NR_104030.1:n.306-23T>G (DGUOK-AS1) | ||
| XM_005264173.2:c.501A>C (DGUOK) | XP_005264230.1:p.Glu167Asp | |
| XM_005264174.1:c.501A>C (DGUOK) | XP_005264231.1:p.Glu167Asp | |
| XM_011532647.1:c.774A>C (DGUOK) | XP_011530949.1:p.Glu258Asp | |
| XM_011532648.1:c.483A>C (DGUOK) | XP_011530950.1:p.Glu161Asp | |
| XR_244926.2:n.757A>C (DGUOK) | ||
| NM_001318859.1:c.510A>C (DGUOK) | NP_001305788.1:p.Glu170Asp | |
| NM_001318860.1:c.501A>C (DGUOK) | NP_001305789.1:p.Glu167Asp | |
| NM_001318861.1:c.501A>C (DGUOK) | NP_001305790.1:p.Glu167Asp | |
| NM_001318862.1:c.483A>C (DGUOK) | NP_001305791.1:p.Glu161Asp | |
| NM_001318863.1:c.483A>C (DGUOK) | NP_001305792.1:p.Glu161Asp | |
| NR_134893.1:n.500A>C (DGUOK) | ||
| NR_134894.1:n.648A>C (DGUOK) | ||
| NR_134895.1:n.312A>C (DGUOK) | ||
| NR_134896.1:n.482A>C (DGUOK) | ||
| NR_134897.1:n.692A>C (DGUOK) | ||
| NR_134898.1:n.616A>C (DGUOK) | ||
| XM_011532647.2:c.774A>C (DGUOK) | XP_011530949.1:p.Glu258Asp | |
| XM_024452739.1:c.501A>C (DGUOK) | XP_024308507.1:p.Glu167Asp | |
| XR_001738656.1:n.728A>C (DGUOK) | ||
| XR_244926.3:n.759A>C (DGUOK) | ||
| NM_080916.3:c.792A>C (DGUOK) MANE Select | NP_550438.1:p.Glu264Asp | |
| NM_001318859.2:c.510A>C (DGUOK) | NP_001305788.1:p.Glu170Asp | |
| NM_001318860.2:c.501A>C (DGUOK) | NP_001305789.1:p.Glu167Asp | |
| NM_001318861.2:c.501A>C (DGUOK) | NP_001305790.1:p.Glu167Asp | |
| NM_001318862.2:c.483A>C (DGUOK) | NP_001305791.1:p.Glu161Asp | |
| NM_001318863.2:c.483A>C (DGUOK) | NP_001305792.1:p.Glu161Asp | |
| NM_080918.3:c.528A>C (DGUOK) | NP_550440.1:p.Glu176Asp | |
| NR_134893.2:n.446A>C (DGUOK) | ||
| NR_134894.2:n.594A>C (DGUOK) | ||
| NR_134895.2:n.258A>C (DGUOK) | ||
| NR_134896.2:n.428A>C (DGUOK) | ||
| NR_134897.2:n.638A>C (DGUOK) | ||
| NR_134898.2:n.562A>C (DGUOK) |