Linked Data
ClinVar Variation Id:
202996
dbSNP Id:
rs794729534
gnomAD v2:
2-179412467-C-T
gnomAD v3:
2-178547740-C-T
gnomAD v4:
2-178547740-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178547740C>T , CM000664.2:g.178547740C>T | GRCh38 |
| NC_000002.11:g.179412467C>T , CM000664.1:g.179412467C>T | GRCh37 |
| NC_000002.10:g.179120713C>T | NCBI36 |
| NG_011618.3:g.288063G>A , LRG_391:g.288063G>A | |
| NG_051363.1:g.29914C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.86182G>A (TTN) | ENSP00000343764.6:p.Val28728Ile | |
| ENST00000342175.11:c.67267G>A (TTN) | ENSP00000340554.6:p.Val22423Ile | |
| ENST00000359218.10:c.67066G>A (TTN) | ENSP00000352154.5:p.Val22356Ile | |
| ENST00000342175.10:c.67267G>A (TTN) | ENSP00000340554.6:p.Val22423Ile | |
| ENST00000342992.10:c.86182G>A (TTN) | ENSP00000343764.6:p.Val28728Ile | |
| ENST00000359218.9:c.67066G>A (TTN) | ENSP00000352154.5:p.Val22356Ile | |
| ENST00000460472.6:c.66691G>A (TTN) | ENSP00000434586.1:p.Val22231Ile | |
| ENST00000589042.5:c.93886G>A (TTN) MANE Select | ENSP00000467141.1:p.Val31296Ile | |
| ENST00000591111.5:c.88963G>A (TTN) | ENSP00000465570.1:p.Val29655Ile | |
| ENST00000615779.4:c.88963G>A (TTN) | ENSP00000483597.1:p.Val29655Ile | |
| NM_001256850.1:c.88963G>A (TTN) | NP_001243779.1:p.Val29655Ile | |
| NM_001267550.2:c.93886G>A (TTN) MANE Select | NP_001254479.2:p.Val31296Ile | |
| NM_003319.4:c.66691G>A (TTN) | NP_003310.4:p.Val22231Ile | |
| NM_133378.4:c.86182G>A (TTN) | NP_596869.4:p.Val28728Ile | |
| NM_133432.3:c.67066G>A (TTN) | NP_597676.3:p.Val22356Ile | |
| NM_133437.4:c.67267G>A (TTN) | NP_597681.4:p.Val22423Ile | |
| NR_038271.1:n.447-23560C>T (TTN-AS1) | ||
| NR_038272.1:n.2043+5379C>T (TTN-AS1) | ||
| XM_011511729.1:c.92983G>A (TTN) | XP_011510031.1:p.Val30995Ile | |
| XM_011511730.1:c.66877G>A (TTN) | XP_011510032.1:p.Val22293Ile | |
| XM_011511731.1:c.66736G>A (TTN) | XP_011510033.1:p.Val22246Ile | |
| XM_017004819.1:c.92779G>A (TTN) | XP_016860308.1:p.Val30927Ile | |
| XM_017004820.1:c.88177G>A (TTN) | XP_016860309.1:p.Val29393Ile | |
| XM_017004821.1:c.88174G>A (TTN) | XP_016860310.1:p.Val29392Ile | |
| XM_017004822.1:c.85216G>A (TTN) | XP_016860311.1:p.Val28406Ile | |
| XM_017004823.1:c.66832G>A (TTN) | XP_016860312.1:p.Val22278Ile | |
| XM_024453094.1:c.88327G>A (TTN) | XP_024308862.1:p.Val29443Ile | |
| XM_024453095.1:c.88324G>A (TTN) | XP_024308863.1:p.Val29442Ile | |
| XM_024453096.1:c.87757G>A (TTN) | XP_024308864.1:p.Val29253Ile | |
| XM_024453097.1:c.85099G>A (TTN) | XP_024308865.1:p.Val28367Ile | |
| XM_024453098.1:c.85018G>A (TTN) | XP_024308866.1:p.Val28340Ile | |
| XM_024453099.1:c.66781G>A (TTN) | XP_024308867.1:p.Val22261Ile | |
| XM_024453100.1:c.56635G>A (TTN) | XP_024308868.1:p.Val18879Ile |