Linked Data
dbSNP Id:
rs368125102
ExAC:
17:54926178 G / A
gnomAD v2:
17-54926178-G-A
gnomAD v3:
17-56848817-G-A
gnomAD v4:
17-56848817-G-A
COSMIC:
COSM561647
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.56848817G>A , CM000679.2:g.56848817G>A | GRCh38 |
| NC_000017.10:g.54926178G>A , CM000679.1:g.54926178G>A | GRCh37 |
| NC_000017.9:g.52281177G>A | NCBI36 |
| NG_033888.1:g.19719G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000284061.8:c.1010G>A (DGKE) MANE Select | ENSP00000284061.3:p.Arg337Gln | |
| ENST00000648772.1:c.*313+3126C>T (TRIM25) | ENSP00000498158.1:n.*313+3126C>T | |
| ENST00000284061.7:c.1010G>A (DGKE) | ENSP00000284061.3:p.Arg337Gln | |
| ENST00000572944.1:c.840G>A (DGKE) | ||
| NM_003647.2:c.1010G>A (DGKE) | NP_003638.1:p.Arg337Gln | |
| XM_011525394.1:c.1064G>A (DGKE) | XP_011523696.1:p.Arg355Gln | |
| XM_011525395.1:c.1064G>A (DGKE) | XP_011523697.1:p.Arg355Gln | |
| XM_011525396.1:c.1064G>A (DGKE) | XP_011523698.1:p.Arg355Gln | |
| XM_011525397.1:c.1064G>A (DGKE) | XP_011523699.1:p.Arg355Gln | |
| XM_011525398.1:c.554G>A (DGKE) | XP_011523700.1:p.Arg185Gln | |
| XR_934581.1:n.1163G>A (DGKE) | ||
| XM_011525394.3:c.1064G>A (DGKE) | XP_011523696.1:p.Arg355Gln | |
| XM_011525395.2:c.1064G>A (DGKE) | XP_011523697.1:p.Arg355Gln | |
| XM_011525396.2:c.1064G>A (DGKE) | XP_011523698.1:p.Arg355Gln | |
| XM_017025243.2:c.1382G>A (DGKE) | XP_016880732.1:p.Arg461Gln | |
| XM_017025244.2:c.1064G>A (DGKE) | XP_016880733.1:p.Arg355Gln | |
| XR_001752670.2:n.1568G>A (DGKE) | ||
| XR_001752671.1:n.1175G>A (DGKE) | ||
| XR_001752672.1:n.1176G>A (DGKE) | ||
| XR_002958079.1:n.1174G>A (DGKE) | ||
| NM_003647.3:c.1010G>A (DGKE) MANE Select | NP_003638.1:p.Arg337Gln |