Linked Data
ClinVar Variation Id:
1730420
ClinVar RCV Id:
RCV002326596
dbSNP Id:
rs1278691474
gnomAD v2:
2-179455839-T-C
gnomAD v3:
2-178591112-T-C
gnomAD v4:
2-178591112-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178591112T>C , CM000664.2:g.178591112T>C | GRCh38 |
| NC_000002.11:g.179455839T>C , CM000664.1:g.179455839T>C | GRCh37 |
| NC_000002.10:g.179164085T>C | NCBI36 |
| NG_011618.3:g.244691A>G , LRG_391:g.244691A>G | |
| NG_051363.1:g.73286T>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000342992.11:c.52909A>G (TTN) | ENSP00000343764.6:p.Ile17637Val | |
| ENST00000342175.11:c.33994A>G (TTN) | ENSP00000340554.6:p.Ile11332Val | |
| ENST00000359218.10:c.33793A>G (TTN) | ENSP00000352154.5:p.Ile11265Val | |
| ENST00000342175.10:c.33994A>G (TTN) | ENSP00000340554.6:p.Ile11332Val | |
| ENST00000342992.10:c.52909A>G (TTN) | ENSP00000343764.6:p.Ile17637Val | |
| ENST00000359218.9:c.33793A>G (TTN) | ENSP00000352154.5:p.Ile11265Val | |
| ENST00000460472.6:c.33418A>G (TTN) | ENSP00000434586.1:p.Ile11140Val | |
| ENST00000589042.5:c.60613A>G (TTN) MANE Select | ENSP00000467141.1:p.Ile20205Val | |
| ENST00000591111.5:c.55690A>G (TTN) | ENSP00000465570.1:p.Ile18564Val | |
| ENST00000615779.4:c.55690A>G (TTN) | ENSP00000483597.1:p.Ile18564Val | |
| NM_001256850.1:c.55690A>G (TTN) | NP_001243779.1:p.Ile18564Val | |
| NM_001267550.2:c.60613A>G (TTN) MANE Select | NP_001254479.2:p.Ile20205Val | |
| NM_003319.4:c.33418A>G (TTN) | NP_003310.4:p.Ile11140Val | |
| NM_133378.4:c.52909A>G (TTN) | NP_596869.4:p.Ile17637Val | |
| NM_133432.3:c.33793A>G (TTN) | NP_597676.3:p.Ile11265Val | |
| NM_133437.4:c.33994A>G (TTN) | NP_597681.4:p.Ile11332Val | |
| NR_038271.1:n.597-6484T>C (TTN-AS1) | ||
| NR_038272.1:n.3189-27T>C (TTN-AS1) | ||
| XM_011511729.1:c.59710A>G (TTN) | XP_011510031.1:p.Ile19904Val | |
| XM_011511730.1:c.33604A>G (TTN) | XP_011510032.1:p.Ile11202Val | |
| XM_011511731.1:c.33463A>G (TTN) | XP_011510033.1:p.Ile11155Val | |
| XM_017004819.1:c.59506A>G (TTN) | XP_016860308.1:p.Ile19836Val | |
| XM_017004820.1:c.54904A>G (TTN) | XP_016860309.1:p.Ile18302Val | |
| XM_017004821.1:c.54901A>G (TTN) | XP_016860310.1:p.Ile18301Val | |
| XM_017004822.1:c.51943A>G (TTN) | XP_016860311.1:p.Ile17315Val | |
| XM_017004823.1:c.33559A>G (TTN) | XP_016860312.1:p.Ile11187Val | |
| XM_024453094.1:c.55054A>G (TTN) | XP_024308862.1:p.Ile18352Val | |
| XM_024453095.1:c.55051A>G (TTN) | XP_024308863.1:p.Ile18351Val | |
| XM_024453096.1:c.54484A>G (TTN) | XP_024308864.1:p.Ile18162Val | |
| XM_024453097.1:c.51826A>G (TTN) | XP_024308865.1:p.Ile17276Val | |
| XM_024453098.1:c.51745A>G (TTN) | XP_024308866.1:p.Ile17249Val | |
| XM_024453099.1:c.33508A>G (TTN) | XP_024308867.1:p.Ile11170Val | |
| XM_024453100.1:c.23362A>G (TTN) | XP_024308868.1:p.Ile7788Val |