Linked Data
ClinVar Variation Id:
2397722
ClinVar RCV Id:
RCV002739056
dbSNP Id:
rs773312573
ExAC:
17:54933951 G / T
gnomAD v2:
17-54933951-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.56856590G>T , CM000679.2:g.56856590G>T | GRCh38 |
| NC_000017.10:g.54933951G>T , CM000679.1:g.54933951G>T | GRCh37 |
| NC_000017.9:g.52288950G>T | NCBI36 |
| NG_033888.1:g.27492G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682766.1:c.1364-1480C>A (TRIM25) | ENSP00000507876.1:n.1364-1480C>A | |
| ENST00000284061.8:c.1177G>T (DGKE) MANE Select | ENSP00000284061.3:p.Ala393Ser | |
| ENST00000648772.1:c.1364-1480C>A (TRIM25) | ENSP00000498158.1:n.1364-1480C>A | |
| ENST00000284061.7:c.1177G>T (DGKE) | ENSP00000284061.3:p.Ala393Ser | |
| ENST00000572944.1:c.1007G>T (DGKE) | ||
| NM_003647.2:c.1177G>T (DGKE) | NP_003638.1:p.Ala393Ser | |
| XM_011525394.1:c.1231G>T (DGKE) | XP_011523696.1:p.Ala411Ser | |
| XM_011525395.1:c.1231G>T (DGKE) | XP_011523697.1:p.Ala411Ser | |
| XM_011525396.1:c.1231G>T (DGKE) | XP_011523698.1:p.Ala411Ser | |
| XM_011525397.1:c.1231G>T (DGKE) | XP_011523699.1:p.Ala411Ser | |
| XM_011525398.1:c.721G>T (DGKE) | XP_011523700.1:p.Ala241Ser | |
| XR_934581.1:n.1330G>T (DGKE) | ||
| XM_011525394.3:c.1231G>T (DGKE) | XP_011523696.1:p.Ala411Ser | |
| XM_011525395.2:c.1231G>T (DGKE) | XP_011523697.1:p.Ala411Ser | |
| XM_011525396.2:c.1231G>T (DGKE) | XP_011523698.1:p.Ala411Ser | |
| XM_017025243.2:c.1549G>T (DGKE) | XP_016880732.1:p.Ala517Ser | |
| XM_017025244.2:c.1231G>T (DGKE) | XP_016880733.1:p.Ala411Ser | |
| XR_001752670.2:n.1735G>T (DGKE) | ||
| XR_001752671.1:n.1342G>T (DGKE) | ||
| XR_001752672.1:n.1343G>T (DGKE) | ||
| XR_002958079.1:n.1341G>T (DGKE) | ||
| NM_003647.3:c.1177G>T (DGKE) MANE Select | NP_003638.1:p.Ala393Ser |