Linked Data
ClinVar Variation Id:
467527
dbSNP Id:
rs774092000
ExAC:
2:179430413 C / T
gnomAD v2:
2-179430413-C-T
gnomAD v3:
2-178565686-C-T
gnomAD v4:
2-178565686-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178565686C>T , CM000664.2:g.178565686C>T | GRCh38 |
| NC_000002.11:g.179430413C>T , CM000664.1:g.179430413C>T | GRCh37 |
| NC_000002.10:g.179138659C>T | NCBI36 |
| NG_011618.3:g.270117G>A , LRG_391:g.270117G>A | |
| NG_051363.1:g.47860C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.72742G>A (TTN) | ENSP00000343764.6:p.Val24248Ile | |
| ENST00000342175.11:c.53827G>A (TTN) | ENSP00000340554.6:p.Val17943Ile | |
| ENST00000359218.10:c.53626G>A (TTN) | ENSP00000352154.5:p.Val17876Ile | |
| ENST00000342175.10:c.53827G>A (TTN) | ENSP00000340554.6:p.Val17943Ile | |
| ENST00000342992.10:c.72742G>A (TTN) | ENSP00000343764.6:p.Val24248Ile | |
| ENST00000359218.9:c.53626G>A (TTN) | ENSP00000352154.5:p.Val17876Ile | |
| ENST00000460472.6:c.53251G>A (TTN) | ENSP00000434586.1:p.Val17751Ile | |
| ENST00000589042.5:c.80446G>A (TTN) MANE Select | ENSP00000467141.1:p.Val26816Ile | |
| ENST00000591111.5:c.75523G>A (TTN) | ENSP00000465570.1:p.Val25175Ile | |
| ENST00000615779.4:c.75523G>A (TTN) | ENSP00000483597.1:p.Val25175Ile | |
| NM_001256850.1:c.75523G>A (TTN) | NP_001243779.1:p.Val25175Ile | |
| NM_001267550.2:c.80446G>A (TTN) MANE Select | NP_001254479.2:p.Val26816Ile | |
| NM_003319.4:c.53251G>A (TTN) | NP_003310.4:p.Val17751Ile | |
| NM_133378.4:c.72742G>A (TTN) | NP_596869.4:p.Val24248Ile | |
| NM_133432.3:c.53626G>A (TTN) | NP_597676.3:p.Val17876Ile | |
| NM_133437.4:c.53827G>A (TTN) | NP_597681.4:p.Val17943Ile | |
| NR_038271.1:n.447-5614C>T (TTN-AS1) | ||
| NR_038272.1:n.2044-16886C>T (TTN-AS1) | ||
| XM_011511729.1:c.79543G>A (TTN) | XP_011510031.1:p.Val26515Ile | |
| XM_011511730.1:c.53437G>A (TTN) | XP_011510032.1:p.Val17813Ile | |
| XM_011511731.1:c.53296G>A (TTN) | XP_011510033.1:p.Val17766Ile | |
| XM_017004819.1:c.79339G>A (TTN) | XP_016860308.1:p.Val26447Ile | |
| XM_017004820.1:c.74737G>A (TTN) | XP_016860309.1:p.Val24913Ile | |
| XM_017004821.1:c.74734G>A (TTN) | XP_016860310.1:p.Val24912Ile | |
| XM_017004822.1:c.71776G>A (TTN) | XP_016860311.1:p.Val23926Ile | |
| XM_017004823.1:c.53392G>A (TTN) | XP_016860312.1:p.Val17798Ile | |
| XM_024453094.1:c.74887G>A (TTN) | XP_024308862.1:p.Val24963Ile | |
| XM_024453095.1:c.74884G>A (TTN) | XP_024308863.1:p.Val24962Ile | |
| XM_024453096.1:c.74317G>A (TTN) | XP_024308864.1:p.Val24773Ile | |
| XM_024453097.1:c.71659G>A (TTN) | XP_024308865.1:p.Val23887Ile | |
| XM_024453098.1:c.71578G>A (TTN) | XP_024308866.1:p.Val23860Ile | |
| XM_024453099.1:c.53341G>A (TTN) | XP_024308867.1:p.Val17781Ile | |
| XM_024453100.1:c.43195G>A (TTN) | XP_024308868.1:p.Val14399Ile |