Linked Data
ClinVar Variation Id:
202669
dbSNP Id:
rs368806005
ExAC:
2:179479651 C / T
gnomAD v2:
2-179479651-C-T
gnomAD v3:
2-178614924-C-T
gnomAD v4:
2-178614924-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178614924C>T , CM000664.2:g.178614924C>T | GRCh38 |
| NC_000002.11:g.179479651C>T , CM000664.1:g.179479651C>T | GRCh37 |
| NC_000002.10:g.179187896C>T | NCBI36 |
| NG_011618.3:g.220879G>A , LRG_391:g.220879G>A | |
| NG_051363.1:g.97098C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.40979G>A (TTN) | ENSP00000343764.6:p.Arg13660His | |
| ENST00000342175.11:c.22064G>A (TTN) | ENSP00000340554.6:p.Arg7355His | |
| ENST00000359218.10:c.21863G>A (TTN) | ENSP00000352154.5:p.Arg7288His | |
| ENST00000342175.10:c.22064G>A (TTN) | ENSP00000340554.6:p.Arg7355His | |
| ENST00000342992.10:c.40979G>A (TTN) | ENSP00000343764.6:p.Arg13660His | |
| ENST00000359218.9:c.21863G>A (TTN) | ENSP00000352154.5:p.Arg7288His | |
| ENST00000460472.6:c.21488G>A (TTN) | ENSP00000434586.1:p.Arg7163His | |
| ENST00000589042.5:c.48683G>A (TTN) MANE Select | ENSP00000467141.1:p.Arg16228His | |
| ENST00000591111.5:c.43760G>A (TTN) | ENSP00000465570.1:p.Arg14587His | |
| ENST00000615779.4:c.43760G>A (TTN) | ENSP00000483597.1:p.Arg14587His | |
| NM_001256850.1:c.43760G>A (TTN) | NP_001243779.1:p.Arg14587His | |
| NM_001267550.2:c.48683G>A (TTN) MANE Select | NP_001254479.2:p.Arg16228His | |
| NM_003319.4:c.21488G>A (TTN) | NP_003310.4:p.Arg7163His | |
| NM_133378.4:c.40979G>A (TTN) | NP_596869.4:p.Arg13660His | |
| NM_133432.3:c.21863G>A (TTN) | NP_597676.3:p.Arg7288His | |
| NM_133437.4:c.22064G>A (TTN) | NP_597681.4:p.Arg7355His | |
| NR_038271.1:n.1552+120C>T (TTN-AS1) | ||
| XM_011511729.1:c.47780G>A (TTN) | XP_011510031.1:p.Arg15927His | |
| XM_011511730.1:c.21674G>A (TTN) | XP_011510032.1:p.Arg7225His | |
| XM_011511731.1:c.21533G>A (TTN) | XP_011510033.1:p.Arg7178His | |
| XM_017004819.1:c.47576G>A (TTN) | XP_016860308.1:p.Arg15859His | |
| XM_017004820.1:c.42974G>A (TTN) | XP_016860309.1:p.Arg14325His | |
| XM_017004821.1:c.42971G>A (TTN) | XP_016860310.1:p.Arg14324His | |
| XM_017004822.1:c.40013G>A (TTN) | XP_016860311.1:p.Arg13338His | |
| XM_017004823.1:c.21629G>A (TTN) | XP_016860312.1:p.Arg7210His | |
| XM_024453094.1:c.43124G>A (TTN) | XP_024308862.1:p.Arg14375His | |
| XM_024453095.1:c.43121G>A (TTN) | XP_024308863.1:p.Arg14374His | |
| XM_024453096.1:c.42554G>A (TTN) | XP_024308864.1:p.Arg14185His | |
| XM_024453097.1:c.39896G>A (TTN) | XP_024308865.1:p.Arg13299His | |
| XM_024453098.1:c.39815G>A (TTN) | XP_024308866.1:p.Arg13272His | |
| XM_024453099.1:c.21578G>A (TTN) | XP_024308867.1:p.Arg7193His | |
| XM_024453100.1:c.11432G>A (TTN) | XP_024308868.1:p.Arg3811His |