Linked Data
ClinVar Variation Id:
178181
dbSNP Id:
rs373532064
ExAC:
2:179425894 C / T
gnomAD v2:
2-179425894-C-T
gnomAD v3:
2-178561167-C-T
gnomAD v4:
2-178561167-C-T
PubMed:
PMID:23861362
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178561167C>T , CM000664.2:g.178561167C>T | GRCh38 |
| NC_000002.11:g.179425894C>T , CM000664.1:g.179425894C>T | GRCh37 |
| NC_000002.10:g.179134140C>T | NCBI36 |
| NG_011618.3:g.274636G>A , LRG_391:g.274636G>A | |
| NG_051363.1:g.43341C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.77261G>A (TTN) | ENSP00000343764.6:p.Arg25754His | |
| ENST00000342175.11:c.58346G>A (TTN) | ENSP00000340554.6:p.Arg19449His | |
| ENST00000359218.10:c.58145G>A (TTN) | ENSP00000352154.5:p.Arg19382His | |
| ENST00000342175.10:c.58346G>A (TTN) | ENSP00000340554.6:p.Arg19449His | |
| ENST00000342992.10:c.77261G>A (TTN) | ENSP00000343764.6:p.Arg25754His | |
| ENST00000359218.9:c.58145G>A (TTN) | ENSP00000352154.5:p.Arg19382His | |
| ENST00000460472.6:c.57770G>A (TTN) | ENSP00000434586.1:p.Arg19257His | |
| ENST00000589042.5:c.84965G>A (TTN) MANE Select | ENSP00000467141.1:p.Arg28322His | |
| ENST00000591111.5:c.80042G>A (TTN) | ENSP00000465570.1:p.Arg26681His | |
| ENST00000615779.4:c.80042G>A (TTN) | ENSP00000483597.1:p.Arg26681His | |
| NM_001256850.1:c.80042G>A (TTN) | NP_001243779.1:p.Arg26681His | |
| NM_001267550.2:c.84965G>A (TTN) MANE Select | NP_001254479.2:p.Arg28322His | |
| NM_003319.4:c.57770G>A (TTN) | NP_003310.4:p.Arg19257His | |
| NM_133378.4:c.77261G>A (TTN) | NP_596869.4:p.Arg25754His | |
| NM_133432.3:c.58145G>A (TTN) | NP_597676.3:p.Arg19382His | |
| NM_133437.4:c.58346G>A (TTN) | NP_597681.4:p.Arg19449His | |
| NR_038271.1:n.447-10133C>T (TTN-AS1) | ||
| NR_038272.1:n.2043+18806C>T (TTN-AS1) | ||
| XM_011511729.1:c.84062G>A (TTN) | XP_011510031.1:p.Arg28021His | |
| XM_011511730.1:c.57956G>A (TTN) | XP_011510032.1:p.Arg19319His | |
| XM_011511731.1:c.57815G>A (TTN) | XP_011510033.1:p.Arg19272His | |
| XM_017004819.1:c.83858G>A (TTN) | XP_016860308.1:p.Arg27953His | |
| XM_017004820.1:c.79256G>A (TTN) | XP_016860309.1:p.Arg26419His | |
| XM_017004821.1:c.79253G>A (TTN) | XP_016860310.1:p.Arg26418His | |
| XM_017004822.1:c.76295G>A (TTN) | XP_016860311.1:p.Arg25432His | |
| XM_017004823.1:c.57911G>A (TTN) | XP_016860312.1:p.Arg19304His | |
| XM_024453094.1:c.79406G>A (TTN) | XP_024308862.1:p.Arg26469His | |
| XM_024453095.1:c.79403G>A (TTN) | XP_024308863.1:p.Arg26468His | |
| XM_024453096.1:c.78836G>A (TTN) | XP_024308864.1:p.Arg26279His | |
| XM_024453097.1:c.76178G>A (TTN) | XP_024308865.1:p.Arg25393His | |
| XM_024453098.1:c.76097G>A (TTN) | XP_024308866.1:p.Arg25366His | |
| XM_024453099.1:c.57860G>A (TTN) | XP_024308867.1:p.Arg19287His | |
| XM_024453100.1:c.47714G>A (TTN) | XP_024308868.1:p.Arg15905His |