Linked Data
dbSNP Id:
rs969410472
gnomAD v2:
17-54923344-A-G
gnomAD v3:
17-56845983-A-G
gnomAD v4:
17-56845983-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.56845983A>G , CM000679.2:g.56845983A>G | GRCh38 |
| NC_000017.10:g.54923344A>G , CM000679.1:g.54923344A>G | GRCh37 |
| NC_000017.9:g.52278343A>G | NCBI36 |
| NG_033888.1:g.16885A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000284061.8:c.744+174A>G (DGKE) MANE Select | ENSP00000284061.3:n.744+174A>G | |
| ENST00000648772.1:c.*314-2193T>C (TRIM25) | ENSP00000498158.1:n.*314-2193T>C | |
| ENST00000284061.7:c.744+174A>G (DGKE) | ENSP00000284061.3:n.744+174A>G | |
| ENST00000571084.1:n.454A>G (DGKE) | ||
| ENST00000572944.1:c.574+174A>G (DGKE) | ||
| ENST00000576869.5:n.892+174A>G (DGKE) | ||
| NM_003647.2:c.744+174A>G (DGKE) | NP_003638.1:n.744+174A>G | |
| XM_011525394.1:c.798+174A>G (DGKE) | XP_011523696.1:n.798+174A>G | |
| XM_011525395.1:c.798+174A>G (DGKE) | XP_011523697.1:n.798+174A>G | |
| XM_011525396.1:c.798+174A>G (DGKE) | XP_011523698.1:n.798+174A>G | |
| XM_011525397.1:c.798+174A>G (DGKE) | XP_011523699.1:n.798+174A>G | |
| XM_011525398.1:c.288+174A>G (DGKE) | XP_011523700.1:n.288+174A>G | |
| XR_934581.1:n.897+174A>G (DGKE) | ||
| XM_011525394.3:c.798+174A>G (DGKE) | XP_011523696.1:n.798+174A>G | |
| XM_011525395.2:c.798+174A>G (DGKE) | XP_011523697.1:n.798+174A>G | |
| XM_011525396.2:c.798+174A>G (DGKE) | XP_011523698.1:n.798+174A>G | |
| XM_017025243.2:c.744+174A>G (DGKE) | XP_016880732.1:n.744+174A>G | |
| XM_017025244.2:c.798+174A>G (DGKE) | XP_016880733.1:n.798+174A>G | |
| XR_001752670.2:n.930+174A>G (DGKE) | ||
| XR_001752671.1:n.909+174A>G (DGKE) | ||
| XR_001752672.1:n.910+174A>G (DGKE) | ||
| XR_002958079.1:n.908+174A>G (DGKE) | ||
| NM_003647.3:c.744+174A>G (DGKE) MANE Select | NP_003638.1:n.744+174A>G |