Linked Data
dbSNP Id:
rs893616877
gnomAD v2:
2-74185282-T-G
gnomAD v3:
2-73958155-T-G
gnomAD v4:
2-73958155-T-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.73958155T>G , CM000664.2:g.73958155T>G | GRCh38 |
| NC_000002.11:g.74185282T>G , CM000664.1:g.74185282T>G | GRCh37 |
| NC_000002.10:g.74038790T>G | NCBI36 |
| NG_008044.1:g.36330T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000264093.9:c.717T>G (DGUOK) MANE Select | ENSP00000264093.4:p.Phe239Leu | |
| ENST00000264093.8:c.717T>G (DGUOK) | ENSP00000264093.4:p.Phe239Leu | |
| ENST00000348222.3:c.453T>G (DGUOK) | ENSP00000306964.3:p.Phe151Leu | |
| ENST00000418996.5:c.*70T>G (DGUOK) | ENSP00000408209.1:n.*70T>G | |
| ENST00000462685.1:n.546T>G (DGUOK) | ||
| ENST00000489796.5:n.602T>G (DGUOK) | ||
| ENST00000629438.2:c.*334T>G (DGUOK) | ENSP00000487122.1:n.*334T>G | |
| NM_080916.2:c.717T>G (DGUOK) | NP_550438.1:p.Phe239Leu | |
| NM_080918.2:c.453T>G (DGUOK) | NP_550440.1:p.Phe151Leu | |
| NR_104029.1:n.384A>C (DGUOK-AS1) | ||
| NR_104030.1:n.358A>C (DGUOK-AS1) | ||
| XM_005264173.2:c.426T>G (DGUOK) | XP_005264230.1:p.Phe142Leu | |
| XM_005264174.1:c.426T>G (DGUOK) | XP_005264231.1:p.Phe142Leu | |
| XM_011532647.1:c.699T>G (DGUOK) | XP_011530949.1:p.Phe233Leu | |
| XM_011532648.1:c.408T>G (DGUOK) | XP_011530950.1:p.Phe136Leu | |
| XR_244926.2:n.682T>G (DGUOK) | ||
| NM_001318859.1:c.435T>G (DGUOK) | NP_001305788.1:p.Phe145Leu | |
| NM_001318860.1:c.426T>G (DGUOK) | NP_001305789.1:p.Phe142Leu | |
| NM_001318861.1:c.426T>G (DGUOK) | NP_001305790.1:p.Phe142Leu | |
| NM_001318862.1:c.408T>G (DGUOK) | NP_001305791.1:p.Phe136Leu | |
| NM_001318863.1:c.408T>G (DGUOK) | NP_001305792.1:p.Phe136Leu | |
| NR_134893.1:n.425T>G (DGUOK) | ||
| NR_134894.1:n.573T>G (DGUOK) | ||
| NR_134895.1:n.237T>G (DGUOK) | ||
| NR_134896.1:n.407T>G (DGUOK) | ||
| NR_134897.1:n.617T>G (DGUOK) | ||
| NR_134898.1:n.541T>G (DGUOK) | ||
| XM_011532647.2:c.699T>G (DGUOK) | XP_011530949.1:p.Phe233Leu | |
| XM_024452739.1:c.426T>G (DGUOK) | XP_024308507.1:p.Phe142Leu | |
| XR_001738656.1:n.653T>G (DGUOK) | ||
| XR_244926.3:n.684T>G (DGUOK) | ||
| NM_080916.3:c.717T>G (DGUOK) MANE Select | NP_550438.1:p.Phe239Leu | |
| NM_001318859.2:c.435T>G (DGUOK) | NP_001305788.1:p.Phe145Leu | |
| NM_001318860.2:c.426T>G (DGUOK) | NP_001305789.1:p.Phe142Leu | |
| NM_001318861.2:c.426T>G (DGUOK) | NP_001305790.1:p.Phe142Leu | |
| NM_001318862.2:c.408T>G (DGUOK) | NP_001305791.1:p.Phe136Leu | |
| NM_001318863.2:c.408T>G (DGUOK) | NP_001305792.1:p.Phe136Leu | |
| NM_080918.3:c.453T>G (DGUOK) | NP_550440.1:p.Phe151Leu | |
| NR_134893.2:n.371T>G (DGUOK) | ||
| NR_134894.2:n.519T>G (DGUOK) | ||
| NR_134895.2:n.183T>G (DGUOK) | ||
| NR_134896.2:n.353T>G (DGUOK) | ||
| NR_134897.2:n.563T>G (DGUOK) | ||
| NR_134898.2:n.487T>G (DGUOK) |