Linked Data
ClinVar Variation Id:
202280
dbSNP Id:
rs370810609
ExAC:
2:179433816 A / G
gnomAD v2:
2-179433816-A-G
gnomAD v3:
2-178569089-A-G
gnomAD v4:
2-178569089-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178569089A>G , CM000664.2:g.178569089A>G | GRCh38 |
| NC_000002.11:g.179433816A>G , CM000664.1:g.179433816A>G | GRCh37 |
| NC_000002.10:g.179142062A>G | NCBI36 |
| NG_011618.3:g.266714T>C , LRG_391:g.266714T>C | |
| NG_051363.1:g.51263A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.69339T>C (TTN) | ENSP00000343764.6:p.Tyr23113= | |
| ENST00000342175.11:c.50424T>C (TTN) | ENSP00000340554.6:p.Tyr16808= | |
| ENST00000359218.10:c.50223T>C (TTN) | ENSP00000352154.5:p.Tyr16741= | |
| ENST00000342175.10:c.50424T>C (TTN) | ENSP00000340554.6:p.Tyr16808= | |
| ENST00000342992.10:c.69339T>C (TTN) | ENSP00000343764.6:p.Tyr23113= | |
| ENST00000359218.9:c.50223T>C (TTN) | ENSP00000352154.5:p.Tyr16741= | |
| ENST00000460472.6:c.49848T>C (TTN) | ENSP00000434586.1:p.Tyr16616= | |
| ENST00000589042.5:c.77043T>C (TTN) MANE Select | ENSP00000467141.1:p.Tyr25681= | |
| ENST00000591111.5:c.72120T>C (TTN) | ENSP00000465570.1:p.Tyr24040= | |
| ENST00000615779.4:c.72120T>C (TTN) | ENSP00000483597.1:p.Tyr24040= | |
| NM_001256850.1:c.72120T>C (TTN) | NP_001243779.1:p.Tyr24040= | |
| NM_001267550.2:c.77043T>C (TTN) MANE Select | NP_001254479.2:p.Tyr25681= | |
| NM_003319.4:c.49848T>C (TTN) | NP_003310.4:p.Tyr16616= | |
| NM_133378.4:c.69339T>C (TTN) | NP_596869.4:p.Tyr23113= | |
| NM_133432.3:c.50223T>C (TTN) | NP_597676.3:p.Tyr16741= | |
| NM_133437.4:c.50424T>C (TTN) | NP_597681.4:p.Tyr16808= | |
| NR_038271.1:n.447-2211A>G (TTN-AS1) | ||
| NR_038272.1:n.2044-13483A>G (TTN-AS1) | ||
| XM_011511729.1:c.76140T>C (TTN) | XP_011510031.1:p.Tyr25380= | |
| XM_011511730.1:c.50034T>C (TTN) | XP_011510032.1:p.Tyr16678= | |
| XM_011511731.1:c.49893T>C (TTN) | XP_011510033.1:p.Tyr16631= | |
| XM_017004819.1:c.75936T>C (TTN) | XP_016860308.1:p.Tyr25312= | |
| XM_017004820.1:c.71334T>C (TTN) | XP_016860309.1:p.Tyr23778= | |
| XM_017004821.1:c.71331T>C (TTN) | XP_016860310.1:p.Tyr23777= | |
| XM_017004822.1:c.68373T>C (TTN) | XP_016860311.1:p.Tyr22791= | |
| XM_017004823.1:c.49989T>C (TTN) | XP_016860312.1:p.Tyr16663= | |
| XM_024453094.1:c.71484T>C (TTN) | XP_024308862.1:p.Tyr23828= | |
| XM_024453095.1:c.71481T>C (TTN) | XP_024308863.1:p.Tyr23827= | |
| XM_024453096.1:c.70914T>C (TTN) | XP_024308864.1:p.Tyr23638= | |
| XM_024453097.1:c.68256T>C (TTN) | XP_024308865.1:p.Tyr22752= | |
| XM_024453098.1:c.68175T>C (TTN) | XP_024308866.1:p.Tyr22725= | |
| XM_024453099.1:c.49938T>C (TTN) | XP_024308867.1:p.Tyr16646= | |
| XM_024453100.1:c.39792T>C (TTN) | XP_024308868.1:p.Tyr13264= |