gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00000443 (AFR)
Genomes Max Group AF
0.000008 (AFR)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178607495G>A , CM000664.2:g.178607495G>A | GRCh38 |
| NC_000002.11:g.179472222G>A , CM000664.1:g.179472222G>A | GRCh37 |
| NC_000002.10:g.179180467G>A | NCBI36 |
| NG_011618.3:g.228308C>T , LRG_391:g.228308C>T | |
| NG_051363.1:g.89669G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.45489C>T (TTN) | ENSP00000343764.6:p.Ile15163= | |
| ENST00000342175.11:c.26574C>T (TTN) | ENSP00000340554.6:p.Ile8858= | |
| ENST00000359218.10:c.26373C>T (TTN) | ENSP00000352154.5:p.Ile8791= | |
| ENST00000342175.10:c.26574C>T (TTN) | ENSP00000340554.6:p.Ile8858= | |
| ENST00000342992.10:c.45489C>T (TTN) | ENSP00000343764.6:p.Ile15163= | |
| ENST00000359218.9:c.26373C>T (TTN) | ENSP00000352154.5:p.Ile8791= | |
| ENST00000460472.6:c.25998C>T (TTN) | ENSP00000434586.1:p.Ile8666= | |
| ENST00000589042.5:c.53193C>T (TTN) MANE Select | ENSP00000467141.1:p.Ile17731= | |
| ENST00000591111.5:c.48270C>T (TTN) | ENSP00000465570.1:p.Ile16090= | |
| ENST00000615779.4:c.48270C>T (TTN) | ENSP00000483597.1:p.Ile16090= | |
| NM_001256850.1:c.48270C>T (TTN) | NP_001243779.1:p.Ile16090= | |
| NM_001267550.2:c.53193C>T (TTN) MANE Select | NP_001254479.2:p.Ile17731= | |
| NM_003319.4:c.25998C>T (TTN) | NP_003310.4:p.Ile8666= | |
| NM_133378.4:c.45489C>T (TTN) | NP_596869.4:p.Ile15163= | |
| NM_133432.3:c.26373C>T (TTN) | NP_597676.3:p.Ile8791= | |
| NM_133437.4:c.26574C>T (TTN) | NP_597681.4:p.Ile8858= | |
| NR_038271.1:n.683-672G>A (TTN-AS1) | ||
| XM_011511729.1:c.52290C>T (TTN) | XP_011510031.1:p.Ile17430= | |
| XM_011511730.1:c.26184C>T (TTN) | XP_011510032.1:p.Ile8728= | |
| XM_011511731.1:c.26043C>T (TTN) | XP_011510033.1:p.Ile8681= | |
| XM_017004819.1:c.52086C>T (TTN) | XP_016860308.1:p.Ile17362= | |
| XM_017004820.1:c.47484C>T (TTN) | XP_016860309.1:p.Ile15828= | |
| XM_017004821.1:c.47481C>T (TTN) | XP_016860310.1:p.Ile15827= | |
| XM_017004822.1:c.44523C>T (TTN) | XP_016860311.1:p.Ile14841= | |
| XM_017004823.1:c.26139C>T (TTN) | XP_016860312.1:p.Ile8713= | |
| XM_024453094.1:c.47634C>T (TTN) | XP_024308862.1:p.Ile15878= | |
| XM_024453095.1:c.47631C>T (TTN) | XP_024308863.1:p.Ile15877= | |
| XM_024453096.1:c.47064C>T (TTN) | XP_024308864.1:p.Ile15688= | |
| XM_024453097.1:c.44406C>T (TTN) | XP_024308865.1:p.Ile14802= | |
| XM_024453098.1:c.44325C>T (TTN) | XP_024308866.1:p.Ile14775= | |
| XM_024453099.1:c.26088C>T (TTN) | XP_024308867.1:p.Ile8696= | |
| XM_024453100.1:c.15942C>T (TTN) | XP_024308868.1:p.Ile5314= |