Linked Data
ClinVar Variation Id:
130687
dbSNP Id:
rs545443009
ExAC:
2:179401159 A / G
gnomAD v2:
2-179401159-A-G
gnomAD v3:
2-178536432-A-G
gnomAD v4:
2-178536432-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178536432A>G , CM000664.2:g.178536432A>G | GRCh38 |
| NC_000002.11:g.179401159A>G , CM000664.1:g.179401159A>G | GRCh37 |
| NC_000002.10:g.179109405A>G | NCBI36 |
| NG_011618.3:g.299371T>C , LRG_391:g.299371T>C | |
| NG_051363.1:g.18606A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.92611T>C (TTN) | ENSP00000343764.6:p.Trp30871Arg | |
| ENST00000342175.11:c.73696T>C (TTN) | ENSP00000340554.6:p.Trp24566Arg | |
| ENST00000359218.10:c.73495T>C (TTN) | ENSP00000352154.5:p.Trp24499Arg | |
| ENST00000342175.10:c.73696T>C (TTN) | ENSP00000340554.6:p.Trp24566Arg | |
| ENST00000342992.10:c.92611T>C (TTN) | ENSP00000343764.6:p.Trp30871Arg | |
| ENST00000359218.9:c.73495T>C (TTN) | ENSP00000352154.5:p.Trp24499Arg | |
| ENST00000460472.6:c.73120T>C (TTN) | ENSP00000434586.1:p.Trp24374Arg | |
| ENST00000589042.5:c.100315T>C (TTN) MANE Select | ENSP00000467141.1:p.Trp33439Arg | |
| ENST00000591111.5:c.95392T>C (TTN) | ENSP00000465570.1:p.Trp31798Arg | |
| ENST00000615779.4:c.95392T>C (TTN) | ENSP00000483597.1:p.Trp31798Arg | |
| NM_001256850.1:c.95392T>C (TTN) | NP_001243779.1:p.Trp31798Arg | |
| NM_001267550.2:c.100315T>C (TTN) MANE Select | NP_001254479.2:p.Trp33439Arg | |
| NM_003319.4:c.73120T>C (TTN) | NP_003310.4:p.Trp24374Arg | |
| NM_133378.4:c.92611T>C (TTN) | NP_596869.4:p.Trp30871Arg | |
| NM_133432.3:c.73495T>C (TTN) | NP_597676.3:p.Trp24499Arg | |
| NM_133437.4:c.73696T>C (TTN) | NP_597681.4:p.Trp24566Arg | |
| NR_038271.1:n.446+12796A>G (TTN-AS1) | ||
| NR_038272.1:n.316+604A>G (TTN-AS1) | ||
| XM_011511729.1:c.99412T>C (TTN) | XP_011510031.1:p.Trp33138Arg | |
| XM_011511730.1:c.73306T>C (TTN) | XP_011510032.1:p.Trp24436Arg | |
| XM_011511731.1:c.73165T>C (TTN) | XP_011510033.1:p.Trp24389Arg | |
| XM_017004819.1:c.99208T>C (TTN) | XP_016860308.1:p.Trp33070Arg | |
| XM_017004820.1:c.94606T>C (TTN) | XP_016860309.1:p.Trp31536Arg | |
| XM_017004821.1:c.94603T>C (TTN) | XP_016860310.1:p.Trp31535Arg | |
| XM_017004822.1:c.91645T>C (TTN) | XP_016860311.1:p.Trp30549Arg | |
| XM_017004823.1:c.73261T>C (TTN) | XP_016860312.1:p.Trp24421Arg | |
| XM_024453094.1:c.94756T>C (TTN) | XP_024308862.1:p.Trp31586Arg | |
| XM_024453095.1:c.94753T>C (TTN) | XP_024308863.1:p.Trp31585Arg | |
| XM_024453096.1:c.94186T>C (TTN) | XP_024308864.1:p.Trp31396Arg | |
| XM_024453097.1:c.91528T>C (TTN) | XP_024308865.1:p.Trp30510Arg | |
| XM_024453098.1:c.91447T>C (TTN) | XP_024308866.1:p.Trp30483Arg | |
| XM_024453099.1:c.73210T>C (TTN) | XP_024308867.1:p.Trp24404Arg | |
| XM_024453100.1:c.63064T>C (TTN) | XP_024308868.1:p.Trp21022Arg |