gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00091237 (EAS)
Genomes Max Group AF
0.00015868 (EAS)
Exomes Max Group AF
0.00096371 (EAS)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178591523A>G , CM000664.2:g.178591523A>G | GRCh38 |
| NC_000002.11:g.179456250A>G , CM000664.1:g.179456250A>G | GRCh37 |
| NC_000002.10:g.179164496A>G | NCBI36 |
| NG_011618.3:g.244280T>C , LRG_391:g.244280T>C | |
| NG_051363.1:g.73697A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.52517-19T>C (TTN) | ENSP00000343764.6:n.52517-19T>C | |
| ENST00000342175.11:c.33602-19T>C (TTN) | ENSP00000340554.6:n.33602-19T>C | |
| ENST00000359218.10:c.33401-19T>C (TTN) | ENSP00000352154.5:n.33401-19T>C | |
| ENST00000342175.10:c.33602-19T>C (TTN) | ENSP00000340554.6:n.33602-19T>C | |
| ENST00000342992.10:c.52517-19T>C (TTN) | ENSP00000343764.6:n.52517-19T>C | |
| ENST00000359218.9:c.33401-19T>C (TTN) | ENSP00000352154.5:n.33401-19T>C | |
| ENST00000460472.6:c.33026-19T>C (TTN) | ENSP00000434586.1:n.33026-19T>C | |
| ENST00000589042.5:c.60221-19T>C (TTN) MANE Select | ENSP00000467141.1:n.60221-19T>C | |
| ENST00000591111.5:c.55298-19T>C (TTN) | ENSP00000465570.1:n.55298-19T>C | |
| ENST00000615779.4:c.55298-19T>C (TTN) | ENSP00000483597.1:n.55298-19T>C | |
| NM_001256850.1:c.55298-19T>C (TTN) | NP_001243779.1:n.55298-19T>C | |
| NM_001267550.2:c.60221-19T>C (TTN) MANE Select | NP_001254479.2:n.60221-19T>C | |
| NM_003319.4:c.33026-19T>C (TTN) | NP_003310.4:n.33026-19T>C | |
| NM_133378.4:c.52517-19T>C (TTN) | NP_596869.4:n.52517-19T>C | |
| NM_133432.3:c.33401-19T>C (TTN) | NP_597676.3:n.33401-19T>C | |
| NM_133437.4:c.33602-19T>C (TTN) | NP_597681.4:n.33602-19T>C | |
| NR_038271.1:n.597-6073A>G (TTN-AS1) | ||
| NR_038272.1:n.3364+209A>G (TTN-AS1) | ||
| XM_011511729.1:c.59318-19T>C (TTN) | XP_011510031.1:n.59318-19T>C | |
| XM_011511730.1:c.33212-19T>C (TTN) | XP_011510032.1:n.33212-19T>C | |
| XM_011511731.1:c.33071-19T>C (TTN) | XP_011510033.1:n.33071-19T>C | |
| XM_017004819.1:c.59114-19T>C (TTN) | XP_016860308.1:n.59114-19T>C | |
| XM_017004820.1:c.54512-19T>C (TTN) | XP_016860309.1:n.54512-19T>C | |
| XM_017004821.1:c.54509-19T>C (TTN) | XP_016860310.1:n.54509-19T>C | |
| XM_017004822.1:c.51551-19T>C (TTN) | XP_016860311.1:n.51551-19T>C | |
| XM_017004823.1:c.33167-19T>C (TTN) | XP_016860312.1:n.33167-19T>C | |
| XM_024453094.1:c.54662-19T>C (TTN) | XP_024308862.1:n.54662-19T>C | |
| XM_024453095.1:c.54659-19T>C (TTN) | XP_024308863.1:n.54659-19T>C | |
| XM_024453096.1:c.54092-19T>C (TTN) | XP_024308864.1:n.54092-19T>C | |
| XM_024453097.1:c.51434-19T>C (TTN) | XP_024308865.1:n.51434-19T>C | |
| XM_024453098.1:c.51353-19T>C (TTN) | XP_024308866.1:n.51353-19T>C | |
| XM_024453099.1:c.33116-19T>C (TTN) | XP_024308867.1:n.33116-19T>C | |
| XM_024453100.1:c.22970-19T>C (TTN) | XP_024308868.1:n.22970-19T>C |