gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.0001361 (SAS)
Genomes Max Group AF
0.00007299 (SAS)
Exomes Max Group AF
0.00012476 (SAS)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178586707G>A , CM000664.2:g.178586707G>A | GRCh38 |
| NC_000002.11:g.179451434G>A , CM000664.1:g.179451434G>A | GRCh37 |
| NC_000002.10:g.179159680G>A | NCBI36 |
| NG_011618.3:g.249096C>T , LRG_391:g.249096C>T | |
| NG_051363.1:g.68881G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.56490C>T (TTN) | ENSP00000343764.6:p.Ile18830= | |
| ENST00000342175.11:c.37575C>T (TTN) | ENSP00000340554.6:p.Ile12525= | |
| ENST00000359218.10:c.37374C>T (TTN) | ENSP00000352154.5:p.Ile12458= | |
| ENST00000342175.10:c.37575C>T (TTN) | ENSP00000340554.6:p.Ile12525= | |
| ENST00000342992.10:c.56490C>T (TTN) | ENSP00000343764.6:p.Ile18830= | |
| ENST00000359218.9:c.37374C>T (TTN) | ENSP00000352154.5:p.Ile12458= | |
| ENST00000460472.6:c.36999C>T (TTN) | ENSP00000434586.1:p.Ile12333= | |
| ENST00000589042.5:c.64194C>T (TTN) MANE Select | ENSP00000467141.1:p.Ile21398= | |
| ENST00000591111.5:c.59271C>T (TTN) | ENSP00000465570.1:p.Ile19757= | |
| ENST00000615779.4:c.59271C>T (TTN) | ENSP00000483597.1:p.Ile19757= | |
| NM_001256850.1:c.59271C>T (TTN) | NP_001243779.1:p.Ile19757= | |
| NM_001267550.2:c.64194C>T (TTN) MANE Select | NP_001254479.2:p.Ile21398= | |
| NM_003319.4:c.36999C>T (TTN) | NP_003310.4:p.Ile12333= | |
| NM_133378.4:c.56490C>T (TTN) | NP_596869.4:p.Ile18830= | |
| NM_133432.3:c.37374C>T (TTN) | NP_597676.3:p.Ile12458= | |
| NM_133437.4:c.37575C>T (TTN) | NP_597681.4:p.Ile12525= | |
| NR_038271.1:n.597-10889G>A (TTN-AS1) | ||
| NR_038272.1:n.3188+1714G>A (TTN-AS1) | ||
| XM_011511729.1:c.63291C>T (TTN) | XP_011510031.1:p.Ile21097= | |
| XM_011511730.1:c.37185C>T (TTN) | XP_011510032.1:p.Ile12395= | |
| XM_011511731.1:c.37044C>T (TTN) | XP_011510033.1:p.Ile12348= | |
| XM_017004819.1:c.63087C>T (TTN) | XP_016860308.1:p.Ile21029= | |
| XM_017004820.1:c.58485C>T (TTN) | XP_016860309.1:p.Ile19495= | |
| XM_017004821.1:c.58482C>T (TTN) | XP_016860310.1:p.Ile19494= | |
| XM_017004822.1:c.55524C>T (TTN) | XP_016860311.1:p.Ile18508= | |
| XM_017004823.1:c.37140C>T (TTN) | XP_016860312.1:p.Ile12380= | |
| XM_024453094.1:c.58635C>T (TTN) | XP_024308862.1:p.Ile19545= | |
| XM_024453095.1:c.58632C>T (TTN) | XP_024308863.1:p.Ile19544= | |
| XM_024453096.1:c.58065C>T (TTN) | XP_024308864.1:p.Ile19355= | |
| XM_024453097.1:c.55407C>T (TTN) | XP_024308865.1:p.Ile18469= | |
| XM_024453098.1:c.55326C>T (TTN) | XP_024308866.1:p.Ile18442= | |
| XM_024453099.1:c.37089C>T (TTN) | XP_024308867.1:p.Ile12363= | |
| XM_024453100.1:c.26943C>T (TTN) | XP_024308868.1:p.Ile8981= |