ClinVar RCV:
ClinVar Variation:
dbSNP:
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.03417476 (SAS)
Genomes Max Group AF
0.02991976 (SAS)
Exomes Max Group AF
0.03420339 (SAS)
Revel Score:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178584459G>A , CM000664.2:g.178584459G>A | GRCh38 |
| NC_000002.11:g.179449186G>A , CM000664.1:g.179449186G>A | GRCh37 |
| NC_000002.10:g.179157432G>A | NCBI36 |
| NG_011618.3:g.251344C>T , LRG_391:g.251344C>T | |
| NG_051363.1:g.66633G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.57388C>T (TTN) | ENSP00000343764.6:p.Arg19130Cys | |
| ENST00000342175.11:c.38473C>T (TTN) | ENSP00000340554.6:p.Arg12825Cys | |
| ENST00000359218.10:c.38272C>T (TTN) | ENSP00000352154.5:p.Arg12758Cys | |
| ENST00000342175.10:c.38473C>T (TTN) | ENSP00000340554.6:p.Arg12825Cys | |
| ENST00000342992.10:c.57388C>T (TTN) | ENSP00000343764.6:p.Arg19130Cys | |
| ENST00000359218.9:c.38272C>T (TTN) | ENSP00000352154.5:p.Arg12758Cys | |
| ENST00000460472.6:c.37897C>T (TTN) | ENSP00000434586.1:p.Arg12633Cys | |
| ENST00000589042.5:c.65092C>T (TTN) MANE Select | ENSP00000467141.1:p.Arg21698Cys | |
| ENST00000591111.5:c.60169C>T (TTN) | ENSP00000465570.1:p.Arg20057Cys | |
| ENST00000615779.4:c.60169C>T (TTN) | ENSP00000483597.1:p.Arg20057Cys | |
| NM_001256850.1:c.60169C>T (TTN) | NP_001243779.1:p.Arg20057Cys | |
| NM_001267550.2:c.65092C>T (TTN) MANE Select | NP_001254479.2:p.Arg21698Cys | |
| NM_003319.4:c.37897C>T (TTN) | NP_003310.4:p.Arg12633Cys | |
| NM_133378.4:c.57388C>T (TTN) | NP_596869.4:p.Arg19130Cys | |
| NM_133432.3:c.38272C>T (TTN) | NP_597676.3:p.Arg12758Cys | |
| NM_133437.4:c.38473C>T (TTN) | NP_597681.4:p.Arg12825Cys | |
| NR_038271.1:n.596+13010G>A (TTN-AS1) | ||
| NR_038272.1:n.2768-114G>A (TTN-AS1) | ||
| XM_011511729.1:c.64189C>T (TTN) | XP_011510031.1:p.Arg21397Cys | |
| XM_011511730.1:c.38083C>T (TTN) | XP_011510032.1:p.Arg12695Cys | |
| XM_011511731.1:c.37942C>T (TTN) | XP_011510033.1:p.Arg12648Cys | |
| XM_017004819.1:c.63985C>T (TTN) | XP_016860308.1:p.Arg21329Cys | |
| XM_017004820.1:c.59383C>T (TTN) | XP_016860309.1:p.Arg19795Cys | |
| XM_017004821.1:c.59380C>T (TTN) | XP_016860310.1:p.Arg19794Cys | |
| XM_017004822.1:c.56422C>T (TTN) | XP_016860311.1:p.Arg18808Cys | |
| XM_017004823.1:c.38038C>T (TTN) | XP_016860312.1:p.Arg12680Cys | |
| XM_024453094.1:c.59533C>T (TTN) | XP_024308862.1:p.Arg19845Cys | |
| XM_024453095.1:c.59530C>T (TTN) | XP_024308863.1:p.Arg19844Cys | |
| XM_024453096.1:c.58963C>T (TTN) | XP_024308864.1:p.Arg19655Cys | |
| XM_024453097.1:c.56305C>T (TTN) | XP_024308865.1:p.Arg18769Cys | |
| XM_024453098.1:c.56224C>T (TTN) | XP_024308866.1:p.Arg18742Cys | |
| XM_024453099.1:c.37987C>T (TTN) | XP_024308867.1:p.Arg12663Cys | |
| XM_024453100.1:c.27841C>T (TTN) | XP_024308868.1:p.Arg9281Cys |