Linked Data
ClinVar Variation Id:
535324
dbSNP Id:
rs777035261
ExAC:
2:179403302 C / T
gnomAD v2:
2-179403302-C-T
gnomAD v3:
2-178538575-C-T
gnomAD v4:
2-178538575-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178538575C>T , CM000664.2:g.178538575C>T | GRCh38 |
| NC_000002.11:g.179403302C>T , CM000664.1:g.179403302C>T | GRCh37 |
| NC_000002.10:g.179111548C>T | NCBI36 |
| NG_011618.3:g.297228G>A , LRG_391:g.297228G>A | |
| NG_051363.1:g.20749C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.91550G>A (TTN) | ENSP00000343764.6:p.Arg30517His | |
| ENST00000342175.11:c.72635G>A (TTN) | ENSP00000340554.6:p.Arg24212His | |
| ENST00000359218.10:c.72434G>A (TTN) | ENSP00000352154.5:p.Arg24145His | |
| ENST00000342175.10:c.72635G>A (TTN) | ENSP00000340554.6:p.Arg24212His | |
| ENST00000342992.10:c.91550G>A (TTN) | ENSP00000343764.6:p.Arg30517His | |
| ENST00000359218.9:c.72434G>A (TTN) | ENSP00000352154.5:p.Arg24145His | |
| ENST00000460472.6:c.72059G>A (TTN) | ENSP00000434586.1:p.Arg24020His | |
| ENST00000589042.5:c.99254G>A (TTN) MANE Select | ENSP00000467141.1:p.Arg33085His | |
| ENST00000591111.5:c.94331G>A (TTN) | ENSP00000465570.1:p.Arg31444His | |
| ENST00000615779.4:c.94331G>A (TTN) | ENSP00000483597.1:p.Arg31444His | |
| NM_001256850.1:c.94331G>A (TTN) | NP_001243779.1:p.Arg31444His | |
| NM_001267550.2:c.99254G>A (TTN) MANE Select | NP_001254479.2:p.Arg33085His | |
| NM_003319.4:c.72059G>A (TTN) | NP_003310.4:p.Arg24020His | |
| NM_133378.4:c.91550G>A (TTN) | NP_596869.4:p.Arg30517His | |
| NM_133432.3:c.72434G>A (TTN) | NP_597676.3:p.Arg24145His | |
| NM_133437.4:c.72635G>A (TTN) | NP_597681.4:p.Arg24212His | |
| NR_038271.1:n.446+14939C>T (TTN-AS1) | ||
| NR_038272.1:n.648-123C>T (TTN-AS1) | ||
| XM_011511729.1:c.98351G>A (TTN) | XP_011510031.1:p.Arg32784His | |
| XM_011511730.1:c.72245G>A (TTN) | XP_011510032.1:p.Arg24082His | |
| XM_011511731.1:c.72104G>A (TTN) | XP_011510033.1:p.Arg24035His | |
| XM_017004819.1:c.98147G>A (TTN) | XP_016860308.1:p.Arg32716His | |
| XM_017004820.1:c.93545G>A (TTN) | XP_016860309.1:p.Arg31182His | |
| XM_017004821.1:c.93542G>A (TTN) | XP_016860310.1:p.Arg31181His | |
| XM_017004822.1:c.90584G>A (TTN) | XP_016860311.1:p.Arg30195His | |
| XM_017004823.1:c.72200G>A (TTN) | XP_016860312.1:p.Arg24067His | |
| XM_024453094.1:c.93695G>A (TTN) | XP_024308862.1:p.Arg31232His | |
| XM_024453095.1:c.93692G>A (TTN) | XP_024308863.1:p.Arg31231His | |
| XM_024453096.1:c.93125G>A (TTN) | XP_024308864.1:p.Arg31042His | |
| XM_024453097.1:c.90467G>A (TTN) | XP_024308865.1:p.Arg30156His | |
| XM_024453098.1:c.90386G>A (TTN) | XP_024308866.1:p.Arg30129His | |
| XM_024453099.1:c.72149G>A (TTN) | XP_024308867.1:p.Arg24050His | |
| XM_024453100.1:c.62003G>A (TTN) | XP_024308868.1:p.Arg20668His |