Linked Data
ClinVar Variation Id:
203089
dbSNP Id:
rs368779151
ExAC:
2:179396293 T / C
gnomAD v2:
2-179396293-T-C
gnomAD v3:
2-178531566-T-C
gnomAD v4:
2-178531566-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178531566T>C , CM000664.2:g.178531566T>C | GRCh38 |
| NC_000002.11:g.179396293T>C , CM000664.1:g.179396293T>C | GRCh37 |
| NC_000002.10:g.179104539T>C | NCBI36 |
| NG_011618.3:g.304237A>G , LRG_391:g.304237A>G | |
| NG_051363.1:g.13740T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.97345A>G (TTN) | ENSP00000343764.6:p.Thr32449Ala | |
| ENST00000342175.11:c.78430A>G (TTN) | ENSP00000340554.6:p.Thr26144Ala | |
| ENST00000359218.10:c.78229A>G (TTN) | ENSP00000352154.5:p.Thr26077Ala | |
| ENST00000342175.10:c.78430A>G (TTN) | ENSP00000340554.6:p.Thr26144Ala | |
| ENST00000342992.10:c.97345A>G (TTN) | ENSP00000343764.6:p.Thr32449Ala | |
| ENST00000359218.9:c.78229A>G (TTN) | ENSP00000352154.5:p.Thr26077Ala | |
| ENST00000460472.6:c.77854A>G (TTN) | ENSP00000434586.1:p.Thr25952Ala | |
| ENST00000589042.5:c.105049A>G (TTN) MANE Select | ENSP00000467141.1:p.Thr35017Ala | |
| ENST00000591111.5:c.100126A>G (TTN) | ENSP00000465570.1:p.Thr33376Ala | |
| ENST00000615779.4:c.100126A>G (TTN) | ENSP00000483597.1:p.Thr33376Ala | |
| NM_001256850.1:c.100126A>G (TTN) | NP_001243779.1:p.Thr33376Ala | |
| NM_001267550.2:c.105049A>G (TTN) MANE Select | NP_001254479.2:p.Thr35017Ala | |
| NM_003319.4:c.77854A>G (TTN) | NP_003310.4:p.Thr25952Ala | |
| NM_133378.4:c.97345A>G (TTN) | NP_596869.4:p.Thr32449Ala | |
| NM_133432.3:c.78229A>G (TTN) | NP_597676.3:p.Thr26077Ala | |
| NM_133437.4:c.78430A>G (TTN) | NP_597681.4:p.Thr26144Ala | |
| NR_038271.1:n.446+7930T>C (TTN-AS1) | ||
| NR_038272.1:n.220-4166T>C (TTN-AS1) | ||
| XM_011511729.1:c.104146A>G (TTN) | XP_011510031.1:p.Thr34716Ala | |
| XM_011511730.1:c.78040A>G (TTN) | XP_011510032.1:p.Thr26014Ala | |
| XM_011511731.1:c.77899A>G (TTN) | XP_011510033.1:p.Thr25967Ala | |
| XM_017004819.1:c.103942A>G (TTN) | XP_016860308.1:p.Thr34648Ala | |
| XM_017004820.1:c.99340A>G (TTN) | XP_016860309.1:p.Thr33114Ala | |
| XM_017004821.1:c.99337A>G (TTN) | XP_016860310.1:p.Thr33113Ala | |
| XM_017004822.1:c.96379A>G (TTN) | XP_016860311.1:p.Thr32127Ala | |
| XM_017004823.1:c.77995A>G (TTN) | XP_016860312.1:p.Thr25999Ala | |
| XM_024453094.1:c.99490A>G (TTN) | XP_024308862.1:p.Thr33164Ala | |
| XM_024453095.1:c.99487A>G (TTN) | XP_024308863.1:p.Thr33163Ala | |
| XM_024453096.1:c.98920A>G (TTN) | XP_024308864.1:p.Thr32974Ala | |
| XM_024453097.1:c.96262A>G (TTN) | XP_024308865.1:p.Thr32088Ala | |
| XM_024453098.1:c.96181A>G (TTN) | XP_024308866.1:p.Thr32061Ala | |
| XM_024453099.1:c.77944A>G (TTN) | XP_024308867.1:p.Thr25982Ala | |
| XM_024453100.1:c.67798A>G (TTN) | XP_024308868.1:p.Thr22600Ala |