Linked Data
dbSNP Id:
rs1302582956
gnomAD v2:
17-54926066-A-G
gnomAD v3:
17-56848705-A-G
gnomAD v4:
17-56848705-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.56848705A>G , CM000679.2:g.56848705A>G | GRCh38 |
| NC_000017.10:g.54926066A>G , CM000679.1:g.54926066A>G | GRCh37 |
| NC_000017.9:g.52281065A>G | NCBI36 |
| NG_033888.1:g.19607A>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000284061.8:c.898A>G (DGKE) MANE Select | ENSP00000284061.3:p.Lys300Glu | |
| ENST00000648772.1:c.*313+3238T>C (TRIM25) | ENSP00000498158.1:n.*313+3238T>C | |
| ENST00000284061.7:c.898A>G (DGKE) | ENSP00000284061.3:p.Lys300Glu | |
| ENST00000572944.1:c.728A>G (DGKE) | ||
| NM_003647.2:c.898A>G (DGKE) | NP_003638.1:p.Lys300Glu | |
| XM_011525394.1:c.952A>G (DGKE) | XP_011523696.1:p.Lys318Glu | |
| XM_011525395.1:c.952A>G (DGKE) | XP_011523697.1:p.Lys318Glu | |
| XM_011525396.1:c.952A>G (DGKE) | XP_011523698.1:p.Lys318Glu | |
| XM_011525397.1:c.952A>G (DGKE) | XP_011523699.1:p.Lys318Glu | |
| XM_011525398.1:c.442A>G (DGKE) | XP_011523700.1:p.Lys148Glu | |
| XR_934581.1:n.1051A>G (DGKE) | ||
| XM_011525394.3:c.952A>G (DGKE) | XP_011523696.1:p.Lys318Glu | |
| XM_011525395.2:c.952A>G (DGKE) | XP_011523697.1:p.Lys318Glu | |
| XM_011525396.2:c.952A>G (DGKE) | XP_011523698.1:p.Lys318Glu | |
| XM_017025243.2:c.1270A>G (DGKE) | XP_016880732.1:p.Lys424Glu | |
| XM_017025244.2:c.952A>G (DGKE) | XP_016880733.1:p.Lys318Glu | |
| XR_001752670.2:n.1456A>G (DGKE) | ||
| XR_001752671.1:n.1063A>G (DGKE) | ||
| XR_001752672.1:n.1064A>G (DGKE) | ||
| XR_002958079.1:n.1062A>G (DGKE) | ||
| NM_003647.3:c.898A>G (DGKE) MANE Select | NP_003638.1:p.Lys300Glu |