Linked Data
ClinVar Variation Id:
467295
dbSNP Id:
rs373351577
ExAC:
2:179463477 A / G
gnomAD v2:
2-179463477-A-G
gnomAD v3:
2-178598750-A-G
gnomAD v4:
2-178598750-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178598750A>G , CM000664.2:g.178598750A>G | GRCh38 |
| NC_000002.11:g.179463477A>G , CM000664.1:g.179463477A>G | GRCh37 |
| NC_000002.10:g.179171722A>G | NCBI36 |
| NG_011618.3:g.237053T>C , LRG_391:g.237053T>C | |
| NG_051363.1:g.80924A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.49256T>C (TTN) | ENSP00000343764.6:p.Ile16419Thr | |
| ENST00000342175.11:c.30341T>C (TTN) | ENSP00000340554.6:p.Ile10114Thr | |
| ENST00000359218.10:c.30140T>C (TTN) | ENSP00000352154.5:p.Ile10047Thr | |
| ENST00000342175.10:c.30341T>C (TTN) | ENSP00000340554.6:p.Ile10114Thr | |
| ENST00000342992.10:c.49256T>C (TTN) | ENSP00000343764.6:p.Ile16419Thr | |
| ENST00000359218.9:c.30140T>C (TTN) | ENSP00000352154.5:p.Ile10047Thr | |
| ENST00000460472.6:c.29765T>C (TTN) | ENSP00000434586.1:p.Ile9922Thr | |
| ENST00000589042.5:c.56960T>C (TTN) MANE Select | ENSP00000467141.1:p.Ile18987Thr | |
| ENST00000591111.5:c.52037T>C (TTN) | ENSP00000465570.1:p.Ile17346Thr | |
| ENST00000615779.4:c.52037T>C (TTN) | ENSP00000483597.1:p.Ile17346Thr | |
| NM_001256850.1:c.52037T>C (TTN) | NP_001243779.1:p.Ile17346Thr | |
| NM_001267550.2:c.56960T>C (TTN) MANE Select | NP_001254479.2:p.Ile18987Thr | |
| NM_003319.4:c.29765T>C (TTN) | NP_003310.4:p.Ile9922Thr | |
| NM_133378.4:c.49256T>C (TTN) | NP_596869.4:p.Ile16419Thr | |
| NM_133432.3:c.30140T>C (TTN) | NP_597676.3:p.Ile10047Thr | |
| NM_133437.4:c.30341T>C (TTN) | NP_597681.4:p.Ile10114Thr | |
| NR_038271.1:n.682+1069A>G (TTN-AS1) | ||
| NR_038272.1:n.3568+77A>G (TTN-AS1) | ||
| XM_011511729.1:c.56057T>C (TTN) | XP_011510031.1:p.Ile18686Thr | |
| XM_011511730.1:c.29951T>C (TTN) | XP_011510032.1:p.Ile9984Thr | |
| XM_011511731.1:c.29810T>C (TTN) | XP_011510033.1:p.Ile9937Thr | |
| XM_017004819.1:c.55853T>C (TTN) | XP_016860308.1:p.Ile18618Thr | |
| XM_017004820.1:c.51251T>C (TTN) | XP_016860309.1:p.Ile17084Thr | |
| XM_017004821.1:c.51248T>C (TTN) | XP_016860310.1:p.Ile17083Thr | |
| XM_017004822.1:c.48290T>C (TTN) | XP_016860311.1:p.Ile16097Thr | |
| XM_017004823.1:c.29906T>C (TTN) | XP_016860312.1:p.Ile9969Thr | |
| XM_024453094.1:c.51401T>C (TTN) | XP_024308862.1:p.Ile17134Thr | |
| XM_024453095.1:c.51398T>C (TTN) | XP_024308863.1:p.Ile17133Thr | |
| XM_024453096.1:c.50831T>C (TTN) | XP_024308864.1:p.Ile16944Thr | |
| XM_024453097.1:c.48173T>C (TTN) | XP_024308865.1:p.Ile16058Thr | |
| XM_024453098.1:c.48092T>C (TTN) | XP_024308866.1:p.Ile16031Thr | |
| XM_024453099.1:c.29855T>C (TTN) | XP_024308867.1:p.Ile9952Thr | |
| XM_024453100.1:c.19709T>C (TTN) | XP_024308868.1:p.Ile6570Thr |