Linked Data
dbSNP Id:
rs778536839
ExAC:
17:54923162 C / A
gnomAD v2:
17-54923162-C-A
gnomAD v4:
17-56845801-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.56845801C>A , CM000679.2:g.56845801C>A | GRCh38 |
| NC_000017.10:g.54923162C>A , CM000679.1:g.54923162C>A | GRCh37 |
| NC_000017.9:g.52278161C>A | NCBI36 |
| NG_033888.1:g.16703C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000284061.8:c.736C>A (DGKE) MANE Select | ENSP00000284061.3:p.Pro246Thr | |
| ENST00000648772.1:c.*314-2011G>T (TRIM25) | ENSP00000498158.1:n.*314-2011G>T | |
| ENST00000284061.7:c.736C>A (DGKE) | ENSP00000284061.3:p.Pro246Thr | |
| ENST00000571084.1:n.272C>A (DGKE) | ||
| ENST00000572944.1:c.566C>A (DGKE) | ||
| ENST00000576869.5:n.884C>A (DGKE) | ||
| NM_003647.2:c.736C>A (DGKE) | NP_003638.1:p.Pro246Thr | |
| XM_011525394.1:c.790C>A (DGKE) | XP_011523696.1:p.Pro264Thr | |
| XM_011525395.1:c.790C>A (DGKE) | XP_011523697.1:p.Pro264Thr | |
| XM_011525396.1:c.790C>A (DGKE) | XP_011523698.1:p.Pro264Thr | |
| XM_011525397.1:c.790C>A (DGKE) | XP_011523699.1:p.Pro264Thr | |
| XM_011525398.1:c.280C>A (DGKE) | XP_011523700.1:p.Pro94Thr | |
| XR_934581.1:n.889C>A (DGKE) | ||
| XM_011525394.3:c.790C>A (DGKE) | XP_011523696.1:p.Pro264Thr | |
| XM_011525395.2:c.790C>A (DGKE) | XP_011523697.1:p.Pro264Thr | |
| XM_011525396.2:c.790C>A (DGKE) | XP_011523698.1:p.Pro264Thr | |
| XM_017025243.2:c.736C>A (DGKE) | XP_016880732.1:p.Pro246Thr | |
| XM_017025244.2:c.790C>A (DGKE) | XP_016880733.1:p.Pro264Thr | |
| XR_001752670.2:n.922C>A (DGKE) | ||
| XR_001752671.1:n.901C>A (DGKE) | ||
| XR_001752672.1:n.902C>A (DGKE) | ||
| XR_002958079.1:n.900C>A (DGKE) | ||
| NM_003647.3:c.736C>A (DGKE) MANE Select | NP_003638.1:p.Pro246Thr |