Linked Data
ClinVar Variation Id:
488491
dbSNP Id:
rs749464475
ExAC:
2:74185314 T / C
gnomAD v2:
2-74185314-T-C
gnomAD v3:
2-73958187-T-C
gnomAD v4:
2-73958187-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.73958187T>C , CM000664.2:g.73958187T>C | GRCh38 |
| NC_000002.11:g.74185314T>C , CM000664.1:g.74185314T>C | GRCh37 |
| NC_000002.10:g.74038822T>C | NCBI36 |
| NG_008044.1:g.36362T>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000264093.9:c.749T>C (DGUOK) MANE Select | ENSP00000264093.4:p.Leu250Ser | |
| ENST00000264093.8:c.749T>C (DGUOK) | ENSP00000264093.4:p.Leu250Ser | |
| ENST00000348222.3:c.485T>C (DGUOK) | ENSP00000306964.3:p.Leu162Ser | |
| ENST00000418996.5:c.*102T>C (DGUOK) | ENSP00000408209.1:n.*102T>C | |
| ENST00000462685.1:n.578T>C (DGUOK) | ||
| ENST00000489796.5:n.634T>C (DGUOK) | ||
| ENST00000629438.2:c.*366T>C (DGUOK) | ENSP00000487122.1:n.*366T>C | |
| NM_080916.2:c.749T>C (DGUOK) | NP_550438.1:p.Leu250Ser | |
| NM_080918.2:c.485T>C (DGUOK) | NP_550440.1:p.Leu162Ser | |
| NR_104029.1:n.352A>G (DGUOK-AS1) | ||
| NR_104030.1:n.326A>G (DGUOK-AS1) | ||
| XM_005264173.2:c.458T>C (DGUOK) | XP_005264230.1:p.Leu153Ser | |
| XM_005264174.1:c.458T>C (DGUOK) | XP_005264231.1:p.Leu153Ser | |
| XM_011532647.1:c.731T>C (DGUOK) | XP_011530949.1:p.Leu244Ser | |
| XM_011532648.1:c.440T>C (DGUOK) | XP_011530950.1:p.Leu147Ser | |
| XR_244926.2:n.714T>C (DGUOK) | ||
| NM_001318859.1:c.467T>C (DGUOK) | NP_001305788.1:p.Leu156Ser | |
| NM_001318860.1:c.458T>C (DGUOK) | NP_001305789.1:p.Leu153Ser | |
| NM_001318861.1:c.458T>C (DGUOK) | NP_001305790.1:p.Leu153Ser | |
| NM_001318862.1:c.440T>C (DGUOK) | NP_001305791.1:p.Leu147Ser | |
| NM_001318863.1:c.440T>C (DGUOK) | NP_001305792.1:p.Leu147Ser | |
| NR_134893.1:n.457T>C (DGUOK) | ||
| NR_134894.1:n.605T>C (DGUOK) | ||
| NR_134895.1:n.269T>C (DGUOK) | ||
| NR_134896.1:n.439T>C (DGUOK) | ||
| NR_134897.1:n.649T>C (DGUOK) | ||
| NR_134898.1:n.573T>C (DGUOK) | ||
| XM_011532647.2:c.731T>C (DGUOK) | XP_011530949.1:p.Leu244Ser | |
| XM_024452739.1:c.458T>C (DGUOK) | XP_024308507.1:p.Leu153Ser | |
| XR_001738656.1:n.685T>C (DGUOK) | ||
| XR_244926.3:n.716T>C (DGUOK) | ||
| NM_080916.3:c.749T>C (DGUOK) MANE Select | NP_550438.1:p.Leu250Ser | |
| NM_001318859.2:c.467T>C (DGUOK) | NP_001305788.1:p.Leu156Ser | |
| NM_001318860.2:c.458T>C (DGUOK) | NP_001305789.1:p.Leu153Ser | |
| NM_001318861.2:c.458T>C (DGUOK) | NP_001305790.1:p.Leu153Ser | |
| NM_001318862.2:c.440T>C (DGUOK) | NP_001305791.1:p.Leu147Ser | |
| NM_001318863.2:c.440T>C (DGUOK) | NP_001305792.1:p.Leu147Ser | |
| NM_080918.3:c.485T>C (DGUOK) | NP_550440.1:p.Leu162Ser | |
| NR_134893.2:n.403T>C (DGUOK) | ||
| NR_134894.2:n.551T>C (DGUOK) | ||
| NR_134895.2:n.215T>C (DGUOK) | ||
| NR_134896.2:n.385T>C (DGUOK) | ||
| NR_134897.2:n.595T>C (DGUOK) | ||
| NR_134898.2:n.519T>C (DGUOK) |