Linked Data
ClinVar Variation Id:
191812
dbSNP Id:
rs370137295
ExAC:
2:179396214 C / T
gnomAD v2:
2-179396214-C-T
gnomAD v3:
2-178531487-C-T
gnomAD v4:
2-178531487-C-T
PubMed:
PMID:23861362
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178531487C>T , CM000664.2:g.178531487C>T | GRCh38 |
| NC_000002.11:g.179396214C>T , CM000664.1:g.179396214C>T | GRCh37 |
| NC_000002.10:g.179104460C>T | NCBI36 |
| NG_011618.3:g.304316G>A , LRG_391:g.304316G>A | |
| NG_051363.1:g.13661C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.97424G>A (TTN) | ENSP00000343764.6:p.Arg32475His | |
| ENST00000342175.11:c.78509G>A (TTN) | ENSP00000340554.6:p.Arg26170His | |
| ENST00000359218.10:c.78308G>A (TTN) | ENSP00000352154.5:p.Arg26103His | |
| ENST00000342175.10:c.78509G>A (TTN) | ENSP00000340554.6:p.Arg26170His | |
| ENST00000342992.10:c.97424G>A (TTN) | ENSP00000343764.6:p.Arg32475His | |
| ENST00000359218.9:c.78308G>A (TTN) | ENSP00000352154.5:p.Arg26103His | |
| ENST00000460472.6:c.77933G>A (TTN) | ENSP00000434586.1:p.Arg25978His | |
| ENST00000589042.5:c.105128G>A (TTN) MANE Select | ENSP00000467141.1:p.Arg35043His | |
| ENST00000591111.5:c.100205G>A (TTN) | ENSP00000465570.1:p.Arg33402His | |
| ENST00000615779.4:c.100205G>A (TTN) | ENSP00000483597.1:p.Arg33402His | |
| NM_001256850.1:c.100205G>A (TTN) | NP_001243779.1:p.Arg33402His | |
| NM_001267550.2:c.105128G>A (TTN) MANE Select | NP_001254479.2:p.Arg35043His | |
| NM_003319.4:c.77933G>A (TTN) | NP_003310.4:p.Arg25978His | |
| NM_133378.4:c.97424G>A (TTN) | NP_596869.4:p.Arg32475His | |
| NM_133432.3:c.78308G>A (TTN) | NP_597676.3:p.Arg26103His | |
| NM_133437.4:c.78509G>A (TTN) | NP_597681.4:p.Arg26170His | |
| NR_038271.1:n.446+7851C>T (TTN-AS1) | ||
| NR_038272.1:n.220-4245C>T (TTN-AS1) | ||
| XM_011511729.1:c.104225G>A (TTN) | XP_011510031.1:p.Arg34742His | |
| XM_011511730.1:c.78119G>A (TTN) | XP_011510032.1:p.Arg26040His | |
| XM_011511731.1:c.77978G>A (TTN) | XP_011510033.1:p.Arg25993His | |
| XM_017004819.1:c.104021G>A (TTN) | XP_016860308.1:p.Arg34674His | |
| XM_017004820.1:c.99419G>A (TTN) | XP_016860309.1:p.Arg33140His | |
| XM_017004821.1:c.99416G>A (TTN) | XP_016860310.1:p.Arg33139His | |
| XM_017004822.1:c.96458G>A (TTN) | XP_016860311.1:p.Arg32153His | |
| XM_017004823.1:c.78074G>A (TTN) | XP_016860312.1:p.Arg26025His | |
| XM_024453094.1:c.99569G>A (TTN) | XP_024308862.1:p.Arg33190His | |
| XM_024453095.1:c.99566G>A (TTN) | XP_024308863.1:p.Arg33189His | |
| XM_024453096.1:c.98999G>A (TTN) | XP_024308864.1:p.Arg33000His | |
| XM_024453097.1:c.96341G>A (TTN) | XP_024308865.1:p.Arg32114His | |
| XM_024453098.1:c.96260G>A (TTN) | XP_024308866.1:p.Arg32087His | |
| XM_024453099.1:c.78023G>A (TTN) | XP_024308867.1:p.Arg26008His | |
| XM_024453100.1:c.67877G>A (TTN) | XP_024308868.1:p.Arg22626His |