Linked Data
ClinVar Variation Id:
1328239
ClinVar RCV Id:
RCV001795671
dbSNP Id:
rs200668710
ExAC:
11:5717709 G / A
gnomAD v2:
11-5717709-G-A
gnomAD v3:
11-5696479-G-A
gnomAD v4:
11-5696479-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.5696479G>A , CM000673.2:g.5696479G>A | GRCh38 |
| NC_000011.9:g.5717709G>A , CM000673.1:g.5717709G>A | GRCh37 |
| NC_000011.8:g.5674285G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000454828.6:c.247G>A (TRIM22) | ENSP00000393250.2:p.Glu83Lys | |
| ENST00000460454.2:n.603G>A (TRIM22) | ||
| ENST00000480395.6:n.446G>A (TRIM22) | ||
| ENST00000699052.1:n.550G>A (TRIM22) | ||
| ENST00000699053.1:c.247G>A (TRIM22) | ENSP00000514103.1:p.Glu83Lys | |
| ENST00000699054.1:n.446G>A (TRIM22) | ||
| ENST00000699055.1:n.407G>A (TRIM22) | ||
| ENST00000699056.1:n.407G>A (TRIM22) | ||
| ENST00000699057.1:c.37G>A (TRIM22) | ENSP00000514104.1:p.Glu13Lys | |
| ENST00000379965.8:c.247G>A (TRIM22) MANE Select | ENSP00000369299.3:p.Glu83Lys | |
| ENST00000379965.7:c.247G>A (TRIM22) | ENSP00000369299.3:p.Glu83Lys | |
| ENST00000380027.5:c.-440-11085C>T (TRIM5) | ENSP00000369366.1:n.-440-11085C>T | |
| ENST00000412903.1:c.-61-16241C>T (TRIM5) | ENSP00000388031.1:n.-61-16241C>T | |
| ENST00000414641.5:c.247G>A (TRIM22) | ENSP00000396849.1:p.Glu83Lys | |
| ENST00000425490.5:c.247G>A (TRIM22) | ENSP00000400417.1:p.Glu83Lys | |
| ENST00000454828.5:c.247G>A (TRIM22) | ENSP00000393250.1:p.Glu83Lys | |
| ENST00000460454.1:n.392G>A (TRIM22) | ||
| NM_001199573.1:c.247G>A (TRIM22) | NP_001186502.1:p.Glu83Lys | |
| NM_006074.4:c.247G>A (TRIM22) | NP_006065.2:p.Glu83Lys | |
| NM_006074.5:c.247G>A (TRIM22) MANE Select | NP_006065.2:p.Glu83Lys | |
| NM_001199573.2:c.247G>A (TRIM22) | NP_001186502.1:p.Glu83Lys |