Linked Data
ClinVar Variation Id:
516826
dbSNP Id:
rs370995867
ExAC:
2:179455476 C / T
gnomAD v2:
2-179455476-C-T
gnomAD v3:
2-178590749-C-T
gnomAD v4:
2-178590749-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178590749C>T , CM000664.2:g.178590749C>T | GRCh38 |
| NC_000002.11:g.179455476C>T , CM000664.1:g.179455476C>T | GRCh37 |
| NC_000002.10:g.179163722C>T | NCBI36 |
| NG_011618.3:g.245054G>A , LRG_391:g.245054G>A | |
| NG_051363.1:g.72923C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.53272G>A (TTN) | ENSP00000343764.6:p.Ala17758Thr | |
| ENST00000342175.11:c.34357G>A (TTN) | ENSP00000340554.6:p.Ala11453Thr | |
| ENST00000359218.10:c.34156G>A (TTN) | ENSP00000352154.5:p.Ala11386Thr | |
| ENST00000342175.10:c.34357G>A (TTN) | ENSP00000340554.6:p.Ala11453Thr | |
| ENST00000342992.10:c.53272G>A (TTN) | ENSP00000343764.6:p.Ala17758Thr | |
| ENST00000359218.9:c.34156G>A (TTN) | ENSP00000352154.5:p.Ala11386Thr | |
| ENST00000460472.6:c.33781G>A (TTN) | ENSP00000434586.1:p.Ala11261Thr | |
| ENST00000589042.5:c.60976G>A (TTN) MANE Select | ENSP00000467141.1:p.Ala20326Thr | |
| ENST00000591111.5:c.56053G>A (TTN) | ENSP00000465570.1:p.Ala18685Thr | |
| ENST00000615779.4:c.56053G>A (TTN) | ENSP00000483597.1:p.Ala18685Thr | |
| NM_001256850.1:c.56053G>A (TTN) | NP_001243779.1:p.Ala18685Thr | |
| NM_001267550.2:c.60976G>A (TTN) MANE Select | NP_001254479.2:p.Ala20326Thr | |
| NM_003319.4:c.33781G>A (TTN) | NP_003310.4:p.Ala11261Thr | |
| NM_133378.4:c.53272G>A (TTN) | NP_596869.4:p.Ala17758Thr | |
| NM_133432.3:c.34156G>A (TTN) | NP_597676.3:p.Ala11386Thr | |
| NM_133437.4:c.34357G>A (TTN) | NP_597681.4:p.Ala11453Thr | |
| NR_038271.1:n.597-6847C>T (TTN-AS1) | ||
| NR_038272.1:n.3189-390C>T (TTN-AS1) | ||
| XM_011511729.1:c.60073G>A (TTN) | XP_011510031.1:p.Ala20025Thr | |
| XM_011511730.1:c.33967G>A (TTN) | XP_011510032.1:p.Ala11323Thr | |
| XM_011511731.1:c.33826G>A (TTN) | XP_011510033.1:p.Ala11276Thr | |
| XM_017004819.1:c.59869G>A (TTN) | XP_016860308.1:p.Ala19957Thr | |
| XM_017004820.1:c.55267G>A (TTN) | XP_016860309.1:p.Ala18423Thr | |
| XM_017004821.1:c.55264G>A (TTN) | XP_016860310.1:p.Ala18422Thr | |
| XM_017004822.1:c.52306G>A (TTN) | XP_016860311.1:p.Ala17436Thr | |
| XM_017004823.1:c.33922G>A (TTN) | XP_016860312.1:p.Ala11308Thr | |
| XM_024453094.1:c.55417G>A (TTN) | XP_024308862.1:p.Ala18473Thr | |
| XM_024453095.1:c.55414G>A (TTN) | XP_024308863.1:p.Ala18472Thr | |
| XM_024453096.1:c.54847G>A (TTN) | XP_024308864.1:p.Ala18283Thr | |
| XM_024453097.1:c.52189G>A (TTN) | XP_024308865.1:p.Ala17397Thr | |
| XM_024453098.1:c.52108G>A (TTN) | XP_024308866.1:p.Ala17370Thr | |
| XM_024453099.1:c.33871G>A (TTN) | XP_024308867.1:p.Ala11291Thr | |
| XM_024453100.1:c.23725G>A (TTN) | XP_024308868.1:p.Ala7909Thr |