Linked Data
dbSNP Id:
rs768623816
ExAC:
17:54933937 C / T
gnomAD v2:
17-54933937-C-T
gnomAD v4:
17-56856576-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.56856576C>T , CM000679.2:g.56856576C>T | GRCh38 |
| NC_000017.10:g.54933937C>T , CM000679.1:g.54933937C>T | GRCh37 |
| NC_000017.9:g.52288936C>T | NCBI36 |
| NG_033888.1:g.27478C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682766.1:c.1364-1466G>A (TRIM25) | ENSP00000507876.1:n.1364-1466G>A | |
| ENST00000284061.8:c.1163C>T (DGKE) MANE Select | ENSP00000284061.3:p.Ala388Val | |
| ENST00000648772.1:c.1364-1466G>A (TRIM25) | ENSP00000498158.1:n.1364-1466G>A | |
| ENST00000284061.7:c.1163C>T (DGKE) | ENSP00000284061.3:p.Ala388Val | |
| ENST00000572944.1:c.993C>T (DGKE) | ||
| NM_003647.2:c.1163C>T (DGKE) | NP_003638.1:p.Ala388Val | |
| XM_011525394.1:c.1217C>T (DGKE) | XP_011523696.1:p.Ala406Val | |
| XM_011525395.1:c.1217C>T (DGKE) | XP_011523697.1:p.Ala406Val | |
| XM_011525396.1:c.1217C>T (DGKE) | XP_011523698.1:p.Ala406Val | |
| XM_011525397.1:c.1217C>T (DGKE) | XP_011523699.1:p.Ala406Val | |
| XM_011525398.1:c.707C>T (DGKE) | XP_011523700.1:p.Ala236Val | |
| XR_934581.1:n.1316C>T (DGKE) | ||
| XM_011525394.3:c.1217C>T (DGKE) | XP_011523696.1:p.Ala406Val | |
| XM_011525395.2:c.1217C>T (DGKE) | XP_011523697.1:p.Ala406Val | |
| XM_011525396.2:c.1217C>T (DGKE) | XP_011523698.1:p.Ala406Val | |
| XM_017025243.2:c.1535C>T (DGKE) | XP_016880732.1:p.Ala512Val | |
| XM_017025244.2:c.1217C>T (DGKE) | XP_016880733.1:p.Ala406Val | |
| XR_001752670.2:n.1721C>T (DGKE) | ||
| XR_001752671.1:n.1328C>T (DGKE) | ||
| XR_001752672.1:n.1329C>T (DGKE) | ||
| XR_002958079.1:n.1327C>T (DGKE) | ||
| NM_003647.3:c.1163C>T (DGKE) MANE Select | NP_003638.1:p.Ala388Val |