gnomAD v2:
gnomAD v4:
Joint Max Group AF
0.00000429 (NFE)
Exomes Max Group AF
0.00000455 (NFE)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178607930G>A , CM000664.2:g.178607930G>A | GRCh38 |
| NC_000002.11:g.179472657G>A , CM000664.1:g.179472657G>A | GRCh37 |
| NC_000002.10:g.179180902G>A | NCBI36 |
| NG_011618.3:g.227873C>T , LRG_391:g.227873C>T | |
| NG_051363.1:g.90104G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.45153C>T (TTN) | ENSP00000343764.6:p.Cys15051= | |
| ENST00000342175.11:c.26238C>T (TTN) | ENSP00000340554.6:p.Cys8746= | |
| ENST00000359218.10:c.26037C>T (TTN) | ENSP00000352154.5:p.Cys8679= | |
| ENST00000342175.10:c.26238C>T (TTN) | ENSP00000340554.6:p.Cys8746= | |
| ENST00000342992.10:c.45153C>T (TTN) | ENSP00000343764.6:p.Cys15051= | |
| ENST00000359218.9:c.26037C>T (TTN) | ENSP00000352154.5:p.Cys8679= | |
| ENST00000460472.6:c.25662C>T (TTN) | ENSP00000434586.1:p.Cys8554= | |
| ENST00000589042.5:c.52857C>T (TTN) MANE Select | ENSP00000467141.1:p.Cys17619= | |
| ENST00000591111.5:c.47934C>T (TTN) | ENSP00000465570.1:p.Cys15978= | |
| ENST00000615779.4:c.47934C>T (TTN) | ENSP00000483597.1:p.Cys15978= | |
| NM_001256850.1:c.47934C>T (TTN) | NP_001243779.1:p.Cys15978= | |
| NM_001267550.2:c.52857C>T (TTN) MANE Select | NP_001254479.2:p.Cys17619= | |
| NM_003319.4:c.25662C>T (TTN) | NP_003310.4:p.Cys8554= | |
| NM_133378.4:c.45153C>T (TTN) | NP_596869.4:p.Cys15051= | |
| NM_133432.3:c.26037C>T (TTN) | NP_597676.3:p.Cys8679= | |
| NM_133437.4:c.26238C>T (TTN) | NP_597681.4:p.Cys8746= | |
| NR_038271.1:n.683-237G>A (TTN-AS1) | ||
| XM_011511729.1:c.51954C>T (TTN) | XP_011510031.1:p.Cys17318= | |
| XM_011511730.1:c.25848C>T (TTN) | XP_011510032.1:p.Cys8616= | |
| XM_011511731.1:c.25707C>T (TTN) | XP_011510033.1:p.Cys8569= | |
| XM_017004819.1:c.51750C>T (TTN) | XP_016860308.1:p.Cys17250= | |
| XM_017004820.1:c.47148C>T (TTN) | XP_016860309.1:p.Cys15716= | |
| XM_017004821.1:c.47145C>T (TTN) | XP_016860310.1:p.Cys15715= | |
| XM_017004822.1:c.44187C>T (TTN) | XP_016860311.1:p.Cys14729= | |
| XM_017004823.1:c.25803C>T (TTN) | XP_016860312.1:p.Cys8601= | |
| XM_024453094.1:c.47298C>T (TTN) | XP_024308862.1:p.Cys15766= | |
| XM_024453095.1:c.47295C>T (TTN) | XP_024308863.1:p.Cys15765= | |
| XM_024453096.1:c.46728C>T (TTN) | XP_024308864.1:p.Cys15576= | |
| XM_024453097.1:c.44070C>T (TTN) | XP_024308865.1:p.Cys14690= | |
| XM_024453098.1:c.43989C>T (TTN) | XP_024308866.1:p.Cys14663= | |
| XM_024453099.1:c.25752C>T (TTN) | XP_024308867.1:p.Cys8584= | |
| XM_024453100.1:c.15606C>T (TTN) | XP_024308868.1:p.Cys5202= |