Linked Data
ClinVar Variation Id:
413130
dbSNP Id:
rs749678590
ExAC:
2:179481473 A / G
gnomAD v2:
2-179481473-A-G
gnomAD v3:
2-178616746-A-G
gnomAD v4:
2-178616746-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178616746A>G , CM000664.2:g.178616746A>G | GRCh38 |
| NC_000002.11:g.179481473A>G , CM000664.1:g.179481473A>G | GRCh37 |
| NC_000002.10:g.179189718A>G | NCBI36 |
| NG_011618.3:g.219057T>C , LRG_391:g.219057T>C | |
| NG_051363.1:g.98920A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.40439T>C (TTN) | ENSP00000343764.6:p.Ile13480Thr | |
| ENST00000342175.11:c.21524T>C (TTN) | ENSP00000340554.6:p.Ile7175Thr | |
| ENST00000359218.10:c.21323T>C (TTN) | ENSP00000352154.5:p.Ile7108Thr | |
| ENST00000342175.10:c.21524T>C (TTN) | ENSP00000340554.6:p.Ile7175Thr | |
| ENST00000342992.10:c.40439T>C (TTN) | ENSP00000343764.6:p.Ile13480Thr | |
| ENST00000359218.9:c.21323T>C (TTN) | ENSP00000352154.5:p.Ile7108Thr | |
| ENST00000460472.6:c.20948T>C (TTN) | ENSP00000434586.1:p.Ile6983Thr | |
| ENST00000589042.5:c.48143T>C (TTN) MANE Select | ENSP00000467141.1:p.Ile16048Thr | |
| ENST00000591111.5:c.43220T>C (TTN) | ENSP00000465570.1:p.Ile14407Thr | |
| ENST00000615779.4:c.43220T>C (TTN) | ENSP00000483597.1:p.Ile14407Thr | |
| NM_001256850.1:c.43220T>C (TTN) | NP_001243779.1:p.Ile14407Thr | |
| NM_001267550.2:c.48143T>C (TTN) MANE Select | NP_001254479.2:p.Ile16048Thr | |
| NM_003319.4:c.20948T>C (TTN) | NP_003310.4:p.Ile6983Thr | |
| NM_133378.4:c.40439T>C (TTN) | NP_596869.4:p.Ile13480Thr | |
| NM_133432.3:c.21323T>C (TTN) | NP_597676.3:p.Ile7108Thr | |
| NM_133437.4:c.21524T>C (TTN) | NP_597681.4:p.Ile7175Thr | |
| NR_038271.1:n.1604+1372A>G (TTN-AS1) | ||
| XM_011511729.1:c.47240T>C (TTN) | XP_011510031.1:p.Ile15747Thr | |
| XM_011511730.1:c.21134T>C (TTN) | XP_011510032.1:p.Ile7045Thr | |
| XM_011511731.1:c.20993T>C (TTN) | XP_011510033.1:p.Ile6998Thr | |
| XM_017004819.1:c.47036T>C (TTN) | XP_016860308.1:p.Ile15679Thr | |
| XM_017004820.1:c.42434T>C (TTN) | XP_016860309.1:p.Ile14145Thr | |
| XM_017004821.1:c.42431T>C (TTN) | XP_016860310.1:p.Ile14144Thr | |
| XM_017004822.1:c.39473T>C (TTN) | XP_016860311.1:p.Ile13158Thr | |
| XM_017004823.1:c.21089T>C (TTN) | XP_016860312.1:p.Ile7030Thr | |
| XM_024453094.1:c.42584T>C (TTN) | XP_024308862.1:p.Ile14195Thr | |
| XM_024453095.1:c.42581T>C (TTN) | XP_024308863.1:p.Ile14194Thr | |
| XM_024453096.1:c.42014T>C (TTN) | XP_024308864.1:p.Ile14005Thr | |
| XM_024453097.1:c.39356T>C (TTN) | XP_024308865.1:p.Ile13119Thr | |
| XM_024453098.1:c.39275T>C (TTN) | XP_024308866.1:p.Ile13092Thr | |
| XM_024453099.1:c.21038T>C (TTN) | XP_024308867.1:p.Ile7013Thr | |
| XM_024453100.1:c.10892T>C (TTN) | XP_024308868.1:p.Ile3631Thr |