Linked Data
ClinVar Variation Id:
467299
dbSNP Id:
rs142841000
ExAC:
2:179462439 C / T
gnomAD v2:
2-179462439-C-T
gnomAD v3:
2-178597712-C-T
gnomAD v4:
2-178597712-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178597712C>T , CM000664.2:g.178597712C>T | GRCh38 |
| NC_000002.11:g.179462439C>T , CM000664.1:g.179462439C>T | GRCh37 |
| NC_000002.10:g.179170684C>T | NCBI36 |
| NG_011618.3:g.238091G>A , LRG_391:g.238091G>A | |
| NG_051363.1:g.79886C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.49666G>A (TTN) | ENSP00000343764.6:p.Val16556Ile | |
| ENST00000342175.11:c.30751G>A (TTN) | ENSP00000340554.6:p.Val10251Ile | |
| ENST00000359218.10:c.30550G>A (TTN) | ENSP00000352154.5:p.Val10184Ile | |
| ENST00000342175.10:c.30751G>A (TTN) | ENSP00000340554.6:p.Val10251Ile | |
| ENST00000342992.10:c.49666G>A (TTN) | ENSP00000343764.6:p.Val16556Ile | |
| ENST00000359218.9:c.30550G>A (TTN) | ENSP00000352154.5:p.Val10184Ile | |
| ENST00000460472.6:c.30175G>A (TTN) | ENSP00000434586.1:p.Val10059Ile | |
| ENST00000589042.5:c.57370G>A (TTN) MANE Select | ENSP00000467141.1:p.Val19124Ile | |
| ENST00000591111.5:c.52447G>A (TTN) | ENSP00000465570.1:p.Val17483Ile | |
| ENST00000615779.4:c.52447G>A (TTN) | ENSP00000483597.1:p.Val17483Ile | |
| NM_001256850.1:c.52447G>A (TTN) | NP_001243779.1:p.Val17483Ile | |
| NM_001267550.2:c.57370G>A (TTN) MANE Select | NP_001254479.2:p.Val19124Ile | |
| NM_003319.4:c.30175G>A (TTN) | NP_003310.4:p.Val10059Ile | |
| NM_133378.4:c.49666G>A (TTN) | NP_596869.4:p.Val16556Ile | |
| NM_133432.3:c.30550G>A (TTN) | NP_597676.3:p.Val10184Ile | |
| NM_133437.4:c.30751G>A (TTN) | NP_597681.4:p.Val10251Ile | |
| NR_038271.1:n.682+31C>T (TTN-AS1) | ||
| NR_038272.1:n.3450+31C>T (TTN-AS1) | ||
| XM_011511729.1:c.56467G>A (TTN) | XP_011510031.1:p.Val18823Ile | |
| XM_011511730.1:c.30361G>A (TTN) | XP_011510032.1:p.Val10121Ile | |
| XM_011511731.1:c.30220G>A (TTN) | XP_011510033.1:p.Val10074Ile | |
| XM_017004819.1:c.56263G>A (TTN) | XP_016860308.1:p.Val18755Ile | |
| XM_017004820.1:c.51661G>A (TTN) | XP_016860309.1:p.Val17221Ile | |
| XM_017004821.1:c.51658G>A (TTN) | XP_016860310.1:p.Val17220Ile | |
| XM_017004822.1:c.48700G>A (TTN) | XP_016860311.1:p.Val16234Ile | |
| XM_017004823.1:c.30316G>A (TTN) | XP_016860312.1:p.Val10106Ile | |
| XM_024453094.1:c.51811G>A (TTN) | XP_024308862.1:p.Val17271Ile | |
| XM_024453095.1:c.51808G>A (TTN) | XP_024308863.1:p.Val17270Ile | |
| XM_024453096.1:c.51241G>A (TTN) | XP_024308864.1:p.Val17081Ile | |
| XM_024453097.1:c.48583G>A (TTN) | XP_024308865.1:p.Val16195Ile | |
| XM_024453098.1:c.48502G>A (TTN) | XP_024308866.1:p.Val16168Ile | |
| XM_024453099.1:c.30265G>A (TTN) | XP_024308867.1:p.Val10089Ile | |
| XM_024453100.1:c.20119G>A (TTN) | XP_024308868.1:p.Val6707Ile |