Linked Data
ClinVar Variation Id:
522493
ClinVar RCV Id:
RCV000625635
dbSNP Id:
rs762576212
ExAC:
17:54926177 C / T
gnomAD v2:
17-54926177-C-T
gnomAD v3:
17-56848816-C-T
gnomAD v4:
17-56848816-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.56848816C>T , CM000679.2:g.56848816C>T | GRCh38 |
| NC_000017.10:g.54926177C>T , CM000679.1:g.54926177C>T | GRCh37 |
| NC_000017.9:g.52281176C>T | NCBI36 |
| NG_033888.1:g.19718C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000284061.8:c.1009C>T (DGKE) MANE Select | ENSP00000284061.3:p.Arg337Ter | |
| ENST00000648772.1:c.*313+3127G>A (TRIM25) | ENSP00000498158.1:n.*313+3127G>A | |
| ENST00000284061.7:c.1009C>T (DGKE) | ENSP00000284061.3:p.Arg337Ter | |
| ENST00000572944.1:c.839C>T (DGKE) | ||
| NM_003647.2:c.1009C>T (DGKE) | NP_003638.1:p.Arg337Ter | |
| XM_011525394.1:c.1063C>T (DGKE) | XP_011523696.1:p.Arg355Ter | |
| XM_011525395.1:c.1063C>T (DGKE) | XP_011523697.1:p.Arg355Ter | |
| XM_011525396.1:c.1063C>T (DGKE) | XP_011523698.1:p.Arg355Ter | |
| XM_011525397.1:c.1063C>T (DGKE) | XP_011523699.1:p.Arg355Ter | |
| XM_011525398.1:c.553C>T (DGKE) | XP_011523700.1:p.Arg185Ter | |
| XR_934581.1:n.1162C>T (DGKE) | ||
| XM_011525394.3:c.1063C>T (DGKE) | XP_011523696.1:p.Arg355Ter | |
| XM_011525395.2:c.1063C>T (DGKE) | XP_011523697.1:p.Arg355Ter | |
| XM_011525396.2:c.1063C>T (DGKE) | XP_011523698.1:p.Arg355Ter | |
| XM_017025243.2:c.1381C>T (DGKE) | XP_016880732.1:p.Arg461Ter | |
| XM_017025244.2:c.1063C>T (DGKE) | XP_016880733.1:p.Arg355Ter | |
| XR_001752670.2:n.1567C>T (DGKE) | ||
| XR_001752671.1:n.1174C>T (DGKE) | ||
| XR_001752672.1:n.1175C>T (DGKE) | ||
| XR_002958079.1:n.1173C>T (DGKE) | ||
| NM_003647.3:c.1009C>T (DGKE) MANE Select | NP_003638.1:p.Arg337Ter |