Linked Data
ClinVar Variation Id:
289523
dbSNP Id:
rs570847832
ExAC:
2:179426671 C / T
gnomAD v2:
2-179426671-C-T
gnomAD v3:
2-178561944-C-T
gnomAD v4:
2-178561944-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178561944C>T , CM000664.2:g.178561944C>T | GRCh38 |
| NC_000002.11:g.179426671C>T , CM000664.1:g.179426671C>T | GRCh37 |
| NC_000002.10:g.179134917C>T | NCBI36 |
| NG_011618.3:g.273859G>A , LRG_391:g.273859G>A | |
| NG_051363.1:g.44118C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.76484G>A (TTN) | ENSP00000343764.6:p.Arg25495His | |
| ENST00000342175.11:c.57569G>A (TTN) | ENSP00000340554.6:p.Arg19190His | |
| ENST00000359218.10:c.57368G>A (TTN) | ENSP00000352154.5:p.Arg19123His | |
| ENST00000342175.10:c.57569G>A (TTN) | ENSP00000340554.6:p.Arg19190His | |
| ENST00000342992.10:c.76484G>A (TTN) | ENSP00000343764.6:p.Arg25495His | |
| ENST00000359218.9:c.57368G>A (TTN) | ENSP00000352154.5:p.Arg19123His | |
| ENST00000460472.6:c.56993G>A (TTN) | ENSP00000434586.1:p.Arg18998His | |
| ENST00000589042.5:c.84188G>A (TTN) MANE Select | ENSP00000467141.1:p.Arg28063His | |
| ENST00000591111.5:c.79265G>A (TTN) | ENSP00000465570.1:p.Arg26422His | |
| ENST00000615779.4:c.79265G>A (TTN) | ENSP00000483597.1:p.Arg26422His | |
| NM_001256850.1:c.79265G>A (TTN) | NP_001243779.1:p.Arg26422His | |
| NM_001267550.2:c.84188G>A (TTN) MANE Select | NP_001254479.2:p.Arg28063His | |
| NM_003319.4:c.56993G>A (TTN) | NP_003310.4:p.Arg18998His | |
| NM_133378.4:c.76484G>A (TTN) | NP_596869.4:p.Arg25495His | |
| NM_133432.3:c.57368G>A (TTN) | NP_597676.3:p.Arg19123His | |
| NM_133437.4:c.57569G>A (TTN) | NP_597681.4:p.Arg19190His | |
| NR_038271.1:n.447-9356C>T (TTN-AS1) | ||
| NR_038272.1:n.2043+19583C>T (TTN-AS1) | ||
| XM_011511729.1:c.83285G>A (TTN) | XP_011510031.1:p.Arg27762His | |
| XM_011511730.1:c.57179G>A (TTN) | XP_011510032.1:p.Arg19060His | |
| XM_011511731.1:c.57038G>A (TTN) | XP_011510033.1:p.Arg19013His | |
| XM_017004819.1:c.83081G>A (TTN) | XP_016860308.1:p.Arg27694His | |
| XM_017004820.1:c.78479G>A (TTN) | XP_016860309.1:p.Arg26160His | |
| XM_017004821.1:c.78476G>A (TTN) | XP_016860310.1:p.Arg26159His | |
| XM_017004822.1:c.75518G>A (TTN) | XP_016860311.1:p.Arg25173His | |
| XM_017004823.1:c.57134G>A (TTN) | XP_016860312.1:p.Arg19045His | |
| XM_024453094.1:c.78629G>A (TTN) | XP_024308862.1:p.Arg26210His | |
| XM_024453095.1:c.78626G>A (TTN) | XP_024308863.1:p.Arg26209His | |
| XM_024453096.1:c.78059G>A (TTN) | XP_024308864.1:p.Arg26020His | |
| XM_024453097.1:c.75401G>A (TTN) | XP_024308865.1:p.Arg25134His | |
| XM_024453098.1:c.75320G>A (TTN) | XP_024308866.1:p.Arg25107His | |
| XM_024453099.1:c.57083G>A (TTN) | XP_024308867.1:p.Arg19028His | |
| XM_024453100.1:c.46937G>A (TTN) | XP_024308868.1:p.Arg15646His |