Linked Data
ClinVar Variation Id:
397600
ClinVar RCV Id:
RCV000449615
dbSNP Id:
rs1060499709
gnomAD v4:
17-56856582-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.56856582G>A , CM000679.2:g.56856582G>A | GRCh38 |
| NC_000017.10:g.54933943G>A , CM000679.1:g.54933943G>A | GRCh37 |
| NC_000017.9:g.52288942G>A | NCBI36 |
| NG_033888.1:g.27484G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000682766.1:c.1364-1472C>T (TRIM25) | ENSP00000507876.1:n.1364-1472C>T | |
| ENST00000284061.8:c.1169G>A (DGKE) MANE Select | ENSP00000284061.3:p.Arg390His | |
| ENST00000648772.1:c.1364-1472C>T (TRIM25) | ENSP00000498158.1:n.1364-1472C>T | |
| ENST00000284061.7:c.1169G>A (DGKE) | ENSP00000284061.3:p.Arg390His | |
| ENST00000572944.1:c.999G>A (DGKE) | ||
| NM_003647.2:c.1169G>A (DGKE) | NP_003638.1:p.Arg390His | |
| XM_011525394.1:c.1223G>A (DGKE) | XP_011523696.1:p.Arg408His | |
| XM_011525395.1:c.1223G>A (DGKE) | XP_011523697.1:p.Arg408His | |
| XM_011525396.1:c.1223G>A (DGKE) | XP_011523698.1:p.Arg408His | |
| XM_011525397.1:c.1223G>A (DGKE) | XP_011523699.1:p.Arg408His | |
| XM_011525398.1:c.713G>A (DGKE) | XP_011523700.1:p.Arg238His | |
| XR_934581.1:n.1322G>A (DGKE) | ||
| XM_011525394.3:c.1223G>A (DGKE) | XP_011523696.1:p.Arg408His | |
| XM_011525395.2:c.1223G>A (DGKE) | XP_011523697.1:p.Arg408His | |
| XM_011525396.2:c.1223G>A (DGKE) | XP_011523698.1:p.Arg408His | |
| XM_017025243.2:c.1541G>A (DGKE) | XP_016880732.1:p.Arg514His | |
| XM_017025244.2:c.1223G>A (DGKE) | XP_016880733.1:p.Arg408His | |
| XR_001752670.2:n.1727G>A (DGKE) | ||
| XR_001752671.1:n.1334G>A (DGKE) | ||
| XR_001752672.1:n.1335G>A (DGKE) | ||
| XR_002958079.1:n.1333G>A (DGKE) | ||
| NM_003647.3:c.1169G>A (DGKE) MANE Select | NP_003638.1:p.Arg390His |