Linked Data
ClinVar Variation Id:
397599
ClinVar RCV Id:
RCV000449567
dbSNP Id:
rs1060499708
gnomAD v4:
17-56861882-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.56861882G>A , CM000679.2:g.56861882G>A | GRCh38 |
| NC_000017.10:g.54939243G>A , CM000679.1:g.54939243G>A | GRCh37 |
| NC_000017.9:g.52294242G>A | NCBI36 |
| NG_033888.1:g.32784G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000682766.1:c.1364-6772C>T (TRIM25) | ENSP00000507876.1:n.1364-6772C>T | |
| ENST00000284061.8:c.1376G>A (DGKE) MANE Select | ENSP00000284061.3:p.Trp459Ter | |
| ENST00000648772.1:c.1364-6772C>T (TRIM25) | ENSP00000498158.1:n.1364-6772C>T | |
| ENST00000284061.7:c.1376G>A (DGKE) | ENSP00000284061.3:p.Trp459Ter | |
| ENST00000572944.1:c.1206G>A (DGKE) | ||
| NM_003647.2:c.1376G>A (DGKE) | NP_003638.1:p.Trp459Ter | |
| XM_011525394.1:c.1430G>A (DGKE) | XP_011523696.1:p.Trp477Ter | |
| XM_011525395.1:c.1430G>A (DGKE) | XP_011523697.1:p.Trp477Ter | |
| XM_011525396.1:c.*67G>A (DGKE) | XP_011523698.1:n.*67G>A | |
| XM_011525398.1:c.920G>A (DGKE) | XP_011523700.1:p.Trp307Ter | |
| XM_011525394.3:c.1430G>A (DGKE) | XP_011523696.1:p.Trp477Ter | |
| XM_011525395.2:c.1430G>A (DGKE) | XP_011523697.1:p.Trp477Ter | |
| XM_011525396.2:c.*67G>A (DGKE) | XP_011523698.1:n.*67G>A | |
| XM_017025243.2:c.1748G>A (DGKE) | XP_016880732.1:p.Trp583Ter | |
| XM_017025244.2:c.1358G>A (DGKE) | XP_016880733.1:p.Trp453Ter | |
| XR_001752670.2:n.1974G>A (DGKE) | ||
| XR_002958079.1:n.1580G>A (DGKE) | ||
| NM_003647.3:c.1376G>A (DGKE) MANE Select | NP_003638.1:p.Trp459Ter |