Linked Data
ClinVar Variation Id:
284443
dbSNP Id:
rs767768313
ExAC:
2:179478814 A / T
gnomAD v2:
2-179478814-A-T
gnomAD v3:
2-178614087-A-T
gnomAD v4:
2-178614087-A-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178614087A>T , CM000664.2:g.178614087A>T | GRCh38 |
| NC_000002.11:g.179478814A>T , CM000664.1:g.179478814A>T | GRCh37 |
| NC_000002.10:g.179187059A>T | NCBI36 |
| NG_011618.3:g.221716T>A , LRG_391:g.221716T>A | |
| NG_051363.1:g.96261A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.41606T>A (TTN) | ENSP00000343764.6:p.Val13869Asp | |
| ENST00000342175.11:c.22691T>A (TTN) | ENSP00000340554.6:p.Val7564Asp | |
| ENST00000359218.10:c.22490T>A (TTN) | ENSP00000352154.5:p.Val7497Asp | |
| ENST00000342175.10:c.22691T>A (TTN) | ENSP00000340554.6:p.Val7564Asp | |
| ENST00000342992.10:c.41606T>A (TTN) | ENSP00000343764.6:p.Val13869Asp | |
| ENST00000359218.9:c.22490T>A (TTN) | ENSP00000352154.5:p.Val7497Asp | |
| ENST00000460472.6:c.22115T>A (TTN) | ENSP00000434586.1:p.Val7372Asp | |
| ENST00000589042.5:c.49310T>A (TTN) MANE Select | ENSP00000467141.1:p.Val16437Asp | |
| ENST00000591111.5:c.44387T>A (TTN) | ENSP00000465570.1:p.Val14796Asp | |
| ENST00000615779.4:c.44387T>A (TTN) | ENSP00000483597.1:p.Val14796Asp | |
| NM_001256850.1:c.44387T>A (TTN) | NP_001243779.1:p.Val14796Asp | |
| NM_001267550.2:c.49310T>A (TTN) MANE Select | NP_001254479.2:p.Val16437Asp | |
| NM_003319.4:c.22115T>A (TTN) | NP_003310.4:p.Val7372Asp | |
| NM_133378.4:c.41606T>A (TTN) | NP_596869.4:p.Val13869Asp | |
| NM_133432.3:c.22490T>A (TTN) | NP_597676.3:p.Val7497Asp | |
| NM_133437.4:c.22691T>A (TTN) | NP_597681.4:p.Val7564Asp | |
| NR_038271.1:n.835A>T (TTN-AS1) | ||
| XM_011511729.1:c.48407T>A (TTN) | XP_011510031.1:p.Val16136Asp | |
| XM_011511730.1:c.22301T>A (TTN) | XP_011510032.1:p.Val7434Asp | |
| XM_011511731.1:c.22160T>A (TTN) | XP_011510033.1:p.Val7387Asp | |
| XM_017004819.1:c.48203T>A (TTN) | XP_016860308.1:p.Val16068Asp | |
| XM_017004820.1:c.43601T>A (TTN) | XP_016860309.1:p.Val14534Asp | |
| XM_017004821.1:c.43598T>A (TTN) | XP_016860310.1:p.Val14533Asp | |
| XM_017004822.1:c.40640T>A (TTN) | XP_016860311.1:p.Val13547Asp | |
| XM_017004823.1:c.22256T>A (TTN) | XP_016860312.1:p.Val7419Asp | |
| XM_024453094.1:c.43751T>A (TTN) | XP_024308862.1:p.Val14584Asp | |
| XM_024453095.1:c.43748T>A (TTN) | XP_024308863.1:p.Val14583Asp | |
| XM_024453096.1:c.43181T>A (TTN) | XP_024308864.1:p.Val14394Asp | |
| XM_024453097.1:c.40523T>A (TTN) | XP_024308865.1:p.Val13508Asp | |
| XM_024453098.1:c.40442T>A (TTN) | XP_024308866.1:p.Val13481Asp | |
| XM_024453099.1:c.22205T>A (TTN) | XP_024308867.1:p.Val7402Asp | |
| XM_024453100.1:c.12059T>A (TTN) | XP_024308868.1:p.Val4020Asp |