gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00001065 (AFR)
Genomes Max Group AF
0.00001922 (AFR)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178607482G>T , CM000664.2:g.178607482G>T | GRCh38 |
| NC_000002.11:g.179472209G>T , CM000664.1:g.179472209G>T | GRCh37 |
| NC_000002.10:g.179180454G>T | NCBI36 |
| NG_011618.3:g.228321C>A , LRG_391:g.228321C>A | |
| NG_051363.1:g.89656G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.45502C>A (TTN) | ENSP00000343764.6:p.Arg15168= | |
| ENST00000342175.11:c.26587C>A (TTN) | ENSP00000340554.6:p.Arg8863= | |
| ENST00000359218.10:c.26386C>A (TTN) | ENSP00000352154.5:p.Arg8796= | |
| ENST00000342175.10:c.26587C>A (TTN) | ENSP00000340554.6:p.Arg8863= | |
| ENST00000342992.10:c.45502C>A (TTN) | ENSP00000343764.6:p.Arg15168= | |
| ENST00000359218.9:c.26386C>A (TTN) | ENSP00000352154.5:p.Arg8796= | |
| ENST00000460472.6:c.26011C>A (TTN) | ENSP00000434586.1:p.Arg8671= | |
| ENST00000589042.5:c.53206C>A (TTN) MANE Select | ENSP00000467141.1:p.Arg17736= | |
| ENST00000591111.5:c.48283C>A (TTN) | ENSP00000465570.1:p.Arg16095= | |
| ENST00000615779.4:c.48283C>A (TTN) | ENSP00000483597.1:p.Arg16095= | |
| NM_001256850.1:c.48283C>A (TTN) | NP_001243779.1:p.Arg16095= | |
| NM_001267550.2:c.53206C>A (TTN) MANE Select | NP_001254479.2:p.Arg17736= | |
| NM_003319.4:c.26011C>A (TTN) | NP_003310.4:p.Arg8671= | |
| NM_133378.4:c.45502C>A (TTN) | NP_596869.4:p.Arg15168= | |
| NM_133432.3:c.26386C>A (TTN) | NP_597676.3:p.Arg8796= | |
| NM_133437.4:c.26587C>A (TTN) | NP_597681.4:p.Arg8863= | |
| NR_038271.1:n.683-685G>T (TTN-AS1) | ||
| XM_011511729.1:c.52303C>A (TTN) | XP_011510031.1:p.Arg17435= | |
| XM_011511730.1:c.26197C>A (TTN) | XP_011510032.1:p.Arg8733= | |
| XM_011511731.1:c.26056C>A (TTN) | XP_011510033.1:p.Arg8686= | |
| XM_017004819.1:c.52099C>A (TTN) | XP_016860308.1:p.Arg17367= | |
| XM_017004820.1:c.47497C>A (TTN) | XP_016860309.1:p.Arg15833= | |
| XM_017004821.1:c.47494C>A (TTN) | XP_016860310.1:p.Arg15832= | |
| XM_017004822.1:c.44536C>A (TTN) | XP_016860311.1:p.Arg14846= | |
| XM_017004823.1:c.26152C>A (TTN) | XP_016860312.1:p.Arg8718= | |
| XM_024453094.1:c.47647C>A (TTN) | XP_024308862.1:p.Arg15883= | |
| XM_024453095.1:c.47644C>A (TTN) | XP_024308863.1:p.Arg15882= | |
| XM_024453096.1:c.47077C>A (TTN) | XP_024308864.1:p.Arg15693= | |
| XM_024453097.1:c.44419C>A (TTN) | XP_024308865.1:p.Arg14807= | |
| XM_024453098.1:c.44338C>A (TTN) | XP_024308866.1:p.Arg14780= | |
| XM_024453099.1:c.26101C>A (TTN) | XP_024308867.1:p.Arg8701= | |
| XM_024453100.1:c.15955C>A (TTN) | XP_024308868.1:p.Arg5319= |