Linked Data
ClinVar Variation Id:
404743
dbSNP Id:
rs201694149
ExAC:
2:179437012 C / T
gnomAD v2:
2-179437012-C-T
gnomAD v3:
2-178572285-C-T
gnomAD v4:
2-178572285-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178572285C>T , CM000664.2:g.178572285C>T | GRCh38 |
| NC_000002.11:g.179437012C>T , CM000664.1:g.179437012C>T | GRCh37 |
| NC_000002.10:g.179145258C>T | NCBI36 |
| NG_011618.3:g.263518G>A , LRG_391:g.263518G>A | |
| NG_051363.1:g.54459C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.66143G>A (TTN) | ENSP00000343764.6:p.Arg22048Gln | |
| ENST00000342175.11:c.47228G>A (TTN) | ENSP00000340554.6:p.Arg15743Gln | |
| ENST00000359218.10:c.47027G>A (TTN) | ENSP00000352154.5:p.Arg15676Gln | |
| ENST00000342175.10:c.47228G>A (TTN) | ENSP00000340554.6:p.Arg15743Gln | |
| ENST00000342992.10:c.66143G>A (TTN) | ENSP00000343764.6:p.Arg22048Gln | |
| ENST00000359218.9:c.47027G>A (TTN) | ENSP00000352154.5:p.Arg15676Gln | |
| ENST00000460472.6:c.46652G>A (TTN) | ENSP00000434586.1:p.Arg15551Gln | |
| ENST00000589042.5:c.73847G>A (TTN) MANE Select | ENSP00000467141.1:p.Arg24616Gln | |
| ENST00000591111.5:c.68924G>A (TTN) | ENSP00000465570.1:p.Arg22975Gln | |
| ENST00000615779.4:c.68924G>A (TTN) | ENSP00000483597.1:p.Arg22975Gln | |
| NM_001256850.1:c.68924G>A (TTN) | NP_001243779.1:p.Arg22975Gln | |
| NM_001267550.2:c.73847G>A (TTN) MANE Select | NP_001254479.2:p.Arg24616Gln | |
| NM_003319.4:c.46652G>A (TTN) | NP_003310.4:p.Arg15551Gln | |
| NM_133378.4:c.66143G>A (TTN) | NP_596869.4:p.Arg22048Gln | |
| NM_133432.3:c.47027G>A (TTN) | NP_597676.3:p.Arg15676Gln | |
| NM_133437.4:c.47228G>A (TTN) | NP_597681.4:p.Arg15743Gln | |
| NR_038271.1:n.596+836C>T (TTN-AS1) | ||
| NR_038272.1:n.2044-10287C>T (TTN-AS1) | ||
| XM_011511729.1:c.72944G>A (TTN) | XP_011510031.1:p.Arg24315Gln | |
| XM_011511730.1:c.46838G>A (TTN) | XP_011510032.1:p.Arg15613Gln | |
| XM_011511731.1:c.46697G>A (TTN) | XP_011510033.1:p.Arg15566Gln | |
| XM_017004819.1:c.72740G>A (TTN) | XP_016860308.1:p.Arg24247Gln | |
| XM_017004820.1:c.68138G>A (TTN) | XP_016860309.1:p.Arg22713Gln | |
| XM_017004821.1:c.68135G>A (TTN) | XP_016860310.1:p.Arg22712Gln | |
| XM_017004822.1:c.65177G>A (TTN) | XP_016860311.1:p.Arg21726Gln | |
| XM_017004823.1:c.46793G>A (TTN) | XP_016860312.1:p.Arg15598Gln | |
| XM_024453094.1:c.68288G>A (TTN) | XP_024308862.1:p.Arg22763Gln | |
| XM_024453095.1:c.68285G>A (TTN) | XP_024308863.1:p.Arg22762Gln | |
| XM_024453096.1:c.67718G>A (TTN) | XP_024308864.1:p.Arg22573Gln | |
| XM_024453097.1:c.65060G>A (TTN) | XP_024308865.1:p.Arg21687Gln | |
| XM_024453098.1:c.64979G>A (TTN) | XP_024308866.1:p.Arg21660Gln | |
| XM_024453099.1:c.46742G>A (TTN) | XP_024308867.1:p.Arg15581Gln | |
| XM_024453100.1:c.36596G>A (TTN) | XP_024308868.1:p.Arg12199Gln |