Linked Data
dbSNP Id:
rs752471158
ExAC:
17:54926193 C / G
gnomAD v2:
17-54926193-C-G
gnomAD v4:
17-56848832-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.56848832C>G , CM000679.2:g.56848832C>G | GRCh38 |
| NC_000017.10:g.54926193C>G , CM000679.1:g.54926193C>G | GRCh37 |
| NC_000017.9:g.52281192C>G | NCBI36 |
| NG_033888.1:g.19734C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000284061.8:c.1025C>G (DGKE) MANE Select | ENSP00000284061.3:p.Ala342Gly | |
| ENST00000648772.1:c.*313+3111G>C (TRIM25) | ENSP00000498158.1:n.*313+3111G>C | |
| ENST00000284061.7:c.1025C>G (DGKE) | ENSP00000284061.3:p.Ala342Gly | |
| ENST00000572944.1:c.855C>G (DGKE) | ||
| NM_003647.2:c.1025C>G (DGKE) | NP_003638.1:p.Ala342Gly | |
| XM_011525394.1:c.1079C>G (DGKE) | XP_011523696.1:p.Ala360Gly | |
| XM_011525395.1:c.1079C>G (DGKE) | XP_011523697.1:p.Ala360Gly | |
| XM_011525396.1:c.1079C>G (DGKE) | XP_011523698.1:p.Ala360Gly | |
| XM_011525397.1:c.1079C>G (DGKE) | XP_011523699.1:p.Ala360Gly | |
| XM_011525398.1:c.569C>G (DGKE) | XP_011523700.1:p.Ala190Gly | |
| XR_934581.1:n.1178C>G (DGKE) | ||
| XM_011525394.3:c.1079C>G (DGKE) | XP_011523696.1:p.Ala360Gly | |
| XM_011525395.2:c.1079C>G (DGKE) | XP_011523697.1:p.Ala360Gly | |
| XM_011525396.2:c.1079C>G (DGKE) | XP_011523698.1:p.Ala360Gly | |
| XM_017025243.2:c.1397C>G (DGKE) | XP_016880732.1:p.Ala466Gly | |
| XM_017025244.2:c.1079C>G (DGKE) | XP_016880733.1:p.Ala360Gly | |
| XR_001752670.2:n.1583C>G (DGKE) | ||
| XR_001752671.1:n.1190C>G (DGKE) | ||
| XR_001752672.1:n.1191C>G (DGKE) | ||
| XR_002958079.1:n.1189C>G (DGKE) | ||
| NM_003647.3:c.1025C>G (DGKE) MANE Select | NP_003638.1:p.Ala342Gly |