Linked Data
ClinVar Variation Id:
404723
dbSNP Id:
rs570615498
ExAC:
2:179433152 C / T
gnomAD v2:
2-179433152-C-T
gnomAD v3:
2-178568425-C-T
gnomAD v4:
2-178568425-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178568425C>T , CM000664.2:g.178568425C>T | GRCh38 |
| NC_000002.11:g.179433152C>T , CM000664.1:g.179433152C>T | GRCh37 |
| NC_000002.10:g.179141398C>T | NCBI36 |
| NG_011618.3:g.267378G>A , LRG_391:g.267378G>A | |
| NG_051363.1:g.50599C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.70003G>A (TTN) | ENSP00000343764.6:p.Val23335Ile | |
| ENST00000342175.11:c.51088G>A (TTN) | ENSP00000340554.6:p.Val17030Ile | |
| ENST00000359218.10:c.50887G>A (TTN) | ENSP00000352154.5:p.Val16963Ile | |
| ENST00000342175.10:c.51088G>A (TTN) | ENSP00000340554.6:p.Val17030Ile | |
| ENST00000342992.10:c.70003G>A (TTN) | ENSP00000343764.6:p.Val23335Ile | |
| ENST00000359218.9:c.50887G>A (TTN) | ENSP00000352154.5:p.Val16963Ile | |
| ENST00000460472.6:c.50512G>A (TTN) | ENSP00000434586.1:p.Val16838Ile | |
| ENST00000589042.5:c.77707G>A (TTN) MANE Select | ENSP00000467141.1:p.Val25903Ile | |
| ENST00000591111.5:c.72784G>A (TTN) | ENSP00000465570.1:p.Val24262Ile | |
| ENST00000615779.4:c.72784G>A (TTN) | ENSP00000483597.1:p.Val24262Ile | |
| NM_001256850.1:c.72784G>A (TTN) | NP_001243779.1:p.Val24262Ile | |
| NM_001267550.2:c.77707G>A (TTN) MANE Select | NP_001254479.2:p.Val25903Ile | |
| NM_003319.4:c.50512G>A (TTN) | NP_003310.4:p.Val16838Ile | |
| NM_133378.4:c.70003G>A (TTN) | NP_596869.4:p.Val23335Ile | |
| NM_133432.3:c.50887G>A (TTN) | NP_597676.3:p.Val16963Ile | |
| NM_133437.4:c.51088G>A (TTN) | NP_597681.4:p.Val17030Ile | |
| NR_038271.1:n.447-2875C>T (TTN-AS1) | ||
| NR_038272.1:n.2044-14147C>T (TTN-AS1) | ||
| XM_011511729.1:c.76804G>A (TTN) | XP_011510031.1:p.Val25602Ile | |
| XM_011511730.1:c.50698G>A (TTN) | XP_011510032.1:p.Val16900Ile | |
| XM_011511731.1:c.50557G>A (TTN) | XP_011510033.1:p.Val16853Ile | |
| XM_017004819.1:c.76600G>A (TTN) | XP_016860308.1:p.Val25534Ile | |
| XM_017004820.1:c.71998G>A (TTN) | XP_016860309.1:p.Val24000Ile | |
| XM_017004821.1:c.71995G>A (TTN) | XP_016860310.1:p.Val23999Ile | |
| XM_017004822.1:c.69037G>A (TTN) | XP_016860311.1:p.Val23013Ile | |
| XM_017004823.1:c.50653G>A (TTN) | XP_016860312.1:p.Val16885Ile | |
| XM_024453094.1:c.72148G>A (TTN) | XP_024308862.1:p.Val24050Ile | |
| XM_024453095.1:c.72145G>A (TTN) | XP_024308863.1:p.Val24049Ile | |
| XM_024453096.1:c.71578G>A (TTN) | XP_024308864.1:p.Val23860Ile | |
| XM_024453097.1:c.68920G>A (TTN) | XP_024308865.1:p.Val22974Ile | |
| XM_024453098.1:c.68839G>A (TTN) | XP_024308866.1:p.Val22947Ile | |
| XM_024453099.1:c.50602G>A (TTN) | XP_024308867.1:p.Val16868Ile | |
| XM_024453100.1:c.40456G>A (TTN) | XP_024308868.1:p.Val13486Ile |