Linked Data
ClinVar Variation Id:
404689
dbSNP Id:
rs369835255
ExAC:
2:179408641 C / T
gnomAD v2:
2-179408641-C-T
gnomAD v3:
2-178543914-C-T
gnomAD v4:
2-178543914-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178543914C>T , CM000664.2:g.178543914C>T | GRCh38 |
| NC_000002.11:g.179408641C>T , CM000664.1:g.179408641C>T | GRCh37 |
| NC_000002.10:g.179116887C>T | NCBI36 |
| NG_011618.3:g.291889G>A , LRG_391:g.291889G>A | |
| NG_051363.1:g.26088C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.88526G>A (TTN) | ENSP00000343764.6:p.Arg29509Gln | |
| ENST00000342175.11:c.69611G>A (TTN) | ENSP00000340554.6:p.Arg23204Gln | |
| ENST00000359218.10:c.69410G>A (TTN) | ENSP00000352154.5:p.Arg23137Gln | |
| ENST00000342175.10:c.69611G>A (TTN) | ENSP00000340554.6:p.Arg23204Gln | |
| ENST00000342992.10:c.88526G>A (TTN) | ENSP00000343764.6:p.Arg29509Gln | |
| ENST00000359218.9:c.69410G>A (TTN) | ENSP00000352154.5:p.Arg23137Gln | |
| ENST00000460472.6:c.69035G>A (TTN) | ENSP00000434586.1:p.Arg23012Gln | |
| ENST00000589042.5:c.96230G>A (TTN) MANE Select | ENSP00000467141.1:p.Arg32077Gln | |
| ENST00000591111.5:c.91307G>A (TTN) | ENSP00000465570.1:p.Arg30436Gln | |
| ENST00000615779.4:c.91307G>A (TTN) | ENSP00000483597.1:p.Arg30436Gln | |
| NM_001256850.1:c.91307G>A (TTN) | NP_001243779.1:p.Arg30436Gln | |
| NM_001267550.2:c.96230G>A (TTN) MANE Select | NP_001254479.2:p.Arg32077Gln | |
| NM_003319.4:c.69035G>A (TTN) | NP_003310.4:p.Arg23012Gln | |
| NM_133378.4:c.88526G>A (TTN) | NP_596869.4:p.Arg29509Gln | |
| NM_133432.3:c.69410G>A (TTN) | NP_597676.3:p.Arg23137Gln | |
| NM_133437.4:c.69611G>A (TTN) | NP_597681.4:p.Arg23204Gln | |
| NR_038271.1:n.446+20278C>T (TTN-AS1) | ||
| NR_038272.1:n.2043+1553C>T (TTN-AS1) | ||
| XM_011511729.1:c.95327G>A (TTN) | XP_011510031.1:p.Arg31776Gln | |
| XM_011511730.1:c.69221G>A (TTN) | XP_011510032.1:p.Arg23074Gln | |
| XM_011511731.1:c.69080G>A (TTN) | XP_011510033.1:p.Arg23027Gln | |
| XM_017004819.1:c.95123G>A (TTN) | XP_016860308.1:p.Arg31708Gln | |
| XM_017004820.1:c.90521G>A (TTN) | XP_016860309.1:p.Arg30174Gln | |
| XM_017004821.1:c.90518G>A (TTN) | XP_016860310.1:p.Arg30173Gln | |
| XM_017004822.1:c.87560G>A (TTN) | XP_016860311.1:p.Arg29187Gln | |
| XM_017004823.1:c.69176G>A (TTN) | XP_016860312.1:p.Arg23059Gln | |
| XM_024453094.1:c.90671G>A (TTN) | XP_024308862.1:p.Arg30224Gln | |
| XM_024453095.1:c.90668G>A (TTN) | XP_024308863.1:p.Arg30223Gln | |
| XM_024453096.1:c.90101G>A (TTN) | XP_024308864.1:p.Arg30034Gln | |
| XM_024453097.1:c.87443G>A (TTN) | XP_024308865.1:p.Arg29148Gln | |
| XM_024453098.1:c.87362G>A (TTN) | XP_024308866.1:p.Arg29121Gln | |
| XM_024453099.1:c.69125G>A (TTN) | XP_024308867.1:p.Arg23042Gln | |
| XM_024453100.1:c.58979G>A (TTN) | XP_024308868.1:p.Arg19660Gln |