gnomAD v2:
gnomAD v4:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178550959A>C , CM000664.2:g.178550959A>C | GRCh38 |
| NC_000002.11:g.179415686A>C , CM000664.1:g.179415686A>C | GRCh37 |
| NC_000002.10:g.179123932A>C | NCBI36 |
| NG_011618.3:g.284844T>G , LRG_391:g.284844T>G | |
| NG_051363.1:g.33133A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.83860+8T>G (TTN) | ENSP00000343764.6:n.83860+8T>G | |
| ENST00000342175.11:c.64945+8T>G (TTN) | ENSP00000340554.6:n.64945+8T>G | |
| ENST00000359218.10:c.64744+8T>G (TTN) | ENSP00000352154.5:n.64744+8T>G | |
| ENST00000342175.10:c.64945+8T>G (TTN) | ENSP00000340554.6:n.64945+8T>G | |
| ENST00000342992.10:c.83860+8T>G (TTN) | ENSP00000343764.6:n.83860+8T>G | |
| ENST00000359218.9:c.64744+8T>G (TTN) | ENSP00000352154.5:n.64744+8T>G | |
| ENST00000460472.6:c.64369+8T>G (TTN) | ENSP00000434586.1:n.64369+8T>G | |
| ENST00000589042.5:c.91564+8T>G (TTN) MANE Select | ENSP00000467141.1:n.91564+8T>G | |
| ENST00000591111.5:c.86641+8T>G (TTN) | ENSP00000465570.1:n.86641+8T>G | |
| ENST00000615779.4:c.86641+8T>G (TTN) | ENSP00000483597.1:n.86641+8T>G | |
| NM_001256850.1:c.86641+8T>G (TTN) | NP_001243779.1:n.86641+8T>G | |
| NM_001267550.2:c.91564+8T>G (TTN) MANE Select | NP_001254479.2:n.91564+8T>G | |
| NM_003319.4:c.64369+8T>G (TTN) | NP_003310.4:n.64369+8T>G | |
| NM_133378.4:c.83860+8T>G (TTN) | NP_596869.4:n.83860+8T>G | |
| NM_133432.3:c.64744+8T>G (TTN) | NP_597676.3:n.64744+8T>G | |
| NM_133437.4:c.64945+8T>G (TTN) | NP_597681.4:n.64945+8T>G | |
| NR_038271.1:n.447-20341A>C (TTN-AS1) | ||
| NR_038272.1:n.2043+8598A>C (TTN-AS1) | ||
| XM_011511729.1:c.90661+8T>G (TTN) | XP_011510031.1:n.90661+8T>G | |
| XM_011511730.1:c.64555+8T>G (TTN) | XP_011510032.1:n.64555+8T>G | |
| XM_011511731.1:c.64414+8T>G (TTN) | XP_011510033.1:n.64414+8T>G | |
| XM_017004819.1:c.90457+8T>G (TTN) | XP_016860308.1:n.90457+8T>G | |
| XM_017004820.1:c.85855+8T>G (TTN) | XP_016860309.1:n.85855+8T>G | |
| XM_017004821.1:c.85852+8T>G (TTN) | XP_016860310.1:n.85852+8T>G | |
| XM_017004822.1:c.82894+8T>G (TTN) | XP_016860311.1:n.82894+8T>G | |
| XM_017004823.1:c.64510+8T>G (TTN) | XP_016860312.1:n.64510+8T>G | |
| XM_024453094.1:c.86005+8T>G (TTN) | XP_024308862.1:n.86005+8T>G | |
| XM_024453095.1:c.86002+8T>G (TTN) | XP_024308863.1:n.86002+8T>G | |
| XM_024453096.1:c.85435+8T>G (TTN) | XP_024308864.1:n.85435+8T>G | |
| XM_024453097.1:c.82777+8T>G (TTN) | XP_024308865.1:n.82777+8T>G | |
| XM_024453098.1:c.82696+8T>G (TTN) | XP_024308866.1:n.82696+8T>G | |
| XM_024453099.1:c.64459+8T>G (TTN) | XP_024308867.1:n.64459+8T>G | |
| XM_024453100.1:c.54313+8T>G (TTN) | XP_024308868.1:n.54313+8T>G |