Linked Data
ClinVar Variation Id:
2419706
ClinVar RCV Id:
RCV003115591
dbSNP Id:
rs374898326
ExAC:
17:54926146 T / C
gnomAD v2:
17-54926146-T-C
gnomAD v3:
17-56848785-T-C
gnomAD v4:
17-56848785-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.56848785T>C , CM000679.2:g.56848785T>C | GRCh38 |
| NC_000017.10:g.54926146T>C , CM000679.1:g.54926146T>C | GRCh37 |
| NC_000017.9:g.52281145T>C | NCBI36 |
| NG_033888.1:g.19687T>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000284061.8:c.978T>C (DGKE) MANE Select | ENSP00000284061.3:p.Tyr326= | |
| ENST00000648772.1:c.*313+3158A>G (TRIM25) | ENSP00000498158.1:n.*313+3158A>G | |
| ENST00000284061.7:c.978T>C (DGKE) | ENSP00000284061.3:p.Tyr326= | |
| ENST00000572944.1:c.808T>C (DGKE) | ||
| NM_003647.2:c.978T>C (DGKE) | NP_003638.1:p.Tyr326= | |
| XM_011525394.1:c.1032T>C (DGKE) | XP_011523696.1:p.Tyr344= | |
| XM_011525395.1:c.1032T>C (DGKE) | XP_011523697.1:p.Tyr344= | |
| XM_011525396.1:c.1032T>C (DGKE) | XP_011523698.1:p.Tyr344= | |
| XM_011525397.1:c.1032T>C (DGKE) | XP_011523699.1:p.Tyr344= | |
| XM_011525398.1:c.522T>C (DGKE) | XP_011523700.1:p.Tyr174= | |
| XR_934581.1:n.1131T>C (DGKE) | ||
| XM_011525394.3:c.1032T>C (DGKE) | XP_011523696.1:p.Tyr344= | |
| XM_011525395.2:c.1032T>C (DGKE) | XP_011523697.1:p.Tyr344= | |
| XM_011525396.2:c.1032T>C (DGKE) | XP_011523698.1:p.Tyr344= | |
| XM_017025243.2:c.1350T>C (DGKE) | XP_016880732.1:p.Tyr450= | |
| XM_017025244.2:c.1032T>C (DGKE) | XP_016880733.1:p.Tyr344= | |
| XR_001752670.2:n.1536T>C (DGKE) | ||
| XR_001752671.1:n.1143T>C (DGKE) | ||
| XR_001752672.1:n.1144T>C (DGKE) | ||
| XR_002958079.1:n.1142T>C (DGKE) | ||
| NM_003647.3:c.978T>C (DGKE) MANE Select | NP_003638.1:p.Tyr326= |