Linked Data
ClinVar Variation Id:
165965
dbSNP Id:
rs115867512
ExAC:
2:179466051 C / T
gnomAD v2:
2-179466051-C-T
gnomAD v3:
2-178601324-C-T
gnomAD v4:
2-178601324-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178601324C>T , CM000664.2:g.178601324C>T | GRCh38 |
| NC_000002.11:g.179466051C>T , CM000664.1:g.179466051C>T | GRCh37 |
| NC_000002.10:g.179174296C>T | NCBI36 |
| NG_011618.3:g.234479G>A , LRG_391:g.234479G>A | |
| NG_051363.1:g.83498C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.47969G>A (TTN) | ENSP00000343764.6:p.Arg15990His | |
| ENST00000342175.11:c.29054G>A (TTN) | ENSP00000340554.6:p.Arg9685His | |
| ENST00000359218.10:c.28853G>A (TTN) | ENSP00000352154.5:p.Arg9618His | |
| ENST00000342175.10:c.29054G>A (TTN) | ENSP00000340554.6:p.Arg9685His | |
| ENST00000342992.10:c.47969G>A (TTN) | ENSP00000343764.6:p.Arg15990His | |
| ENST00000359218.9:c.28853G>A (TTN) | ENSP00000352154.5:p.Arg9618His | |
| ENST00000460472.6:c.28478G>A (TTN) | ENSP00000434586.1:p.Arg9493His | |
| ENST00000589042.5:c.55673G>A (TTN) MANE Select | ENSP00000467141.1:p.Arg18558His | |
| ENST00000591111.5:c.50750G>A (TTN) | ENSP00000465570.1:p.Arg16917His | |
| ENST00000615779.4:c.50750G>A (TTN) | ENSP00000483597.1:p.Arg16917His | |
| NM_001256850.1:c.50750G>A (TTN) | NP_001243779.1:p.Arg16917His | |
| NM_001267550.2:c.55673G>A (TTN) MANE Select | NP_001254479.2:p.Arg18558His | |
| NM_003319.4:c.28478G>A (TTN) | NP_003310.4:p.Arg9493His | |
| NM_133378.4:c.47969G>A (TTN) | NP_596869.4:p.Arg15990His | |
| NM_133432.3:c.28853G>A (TTN) | NP_597676.3:p.Arg9618His | |
| NM_133437.4:c.29054G>A (TTN) | NP_597681.4:p.Arg9685His | |
| NR_038271.1:n.682+3643C>T (TTN-AS1) | ||
| NR_038272.1:n.3917+657C>T (TTN-AS1) | ||
| XM_011511729.1:c.54770G>A (TTN) | XP_011510031.1:p.Arg18257His | |
| XM_011511730.1:c.28664G>A (TTN) | XP_011510032.1:p.Arg9555His | |
| XM_011511731.1:c.28523G>A (TTN) | XP_011510033.1:p.Arg9508His | |
| XM_017004819.1:c.54566G>A (TTN) | XP_016860308.1:p.Arg18189His | |
| XM_017004820.1:c.49964G>A (TTN) | XP_016860309.1:p.Arg16655His | |
| XM_017004821.1:c.49961G>A (TTN) | XP_016860310.1:p.Arg16654His | |
| XM_017004822.1:c.47003G>A (TTN) | XP_016860311.1:p.Arg15668His | |
| XM_017004823.1:c.28619G>A (TTN) | XP_016860312.1:p.Arg9540His | |
| XM_024453094.1:c.50114G>A (TTN) | XP_024308862.1:p.Arg16705His | |
| XM_024453095.1:c.50111G>A (TTN) | XP_024308863.1:p.Arg16704His | |
| XM_024453096.1:c.49544G>A (TTN) | XP_024308864.1:p.Arg16515His | |
| XM_024453097.1:c.46886G>A (TTN) | XP_024308865.1:p.Arg15629His | |
| XM_024453098.1:c.46805G>A (TTN) | XP_024308866.1:p.Arg15602His | |
| XM_024453099.1:c.28568G>A (TTN) | XP_024308867.1:p.Arg9523His | |
| XM_024453100.1:c.18422G>A (TTN) | XP_024308868.1:p.Arg6141His |