Linked Data
ClinVar Variation Id:
202972
dbSNP Id:
rs11887722
ExAC:
2:179416659 C / G
gnomAD v2:
2-179416659-C-G
gnomAD v3:
2-178551932-C-G
gnomAD v4:
2-178551932-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178551932C>G , CM000664.2:g.178551932C>G | GRCh38 |
| NC_000002.11:g.179416659C>G , CM000664.1:g.179416659C>G | GRCh37 |
| NC_000002.10:g.179124905C>G | NCBI36 |
| NG_011618.3:g.283871G>C , LRG_391:g.283871G>C | |
| NG_051363.1:g.34106C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.83264G>C (TTN) | ENSP00000343764.6:p.Arg27755Thr | |
| ENST00000342175.11:c.64349G>C (TTN) | ENSP00000340554.6:p.Arg21450Thr | |
| ENST00000359218.10:c.64148G>C (TTN) | ENSP00000352154.5:p.Arg21383Thr | |
| ENST00000342175.10:c.64349G>C (TTN) | ENSP00000340554.6:p.Arg21450Thr | |
| ENST00000342992.10:c.83264G>C (TTN) | ENSP00000343764.6:p.Arg27755Thr | |
| ENST00000359218.9:c.64148G>C (TTN) | ENSP00000352154.5:p.Arg21383Thr | |
| ENST00000460472.6:c.63773G>C (TTN) | ENSP00000434586.1:p.Arg21258Thr | |
| ENST00000589042.5:c.90968G>C (TTN) MANE Select | ENSP00000467141.1:p.Arg30323Thr | |
| ENST00000591111.5:c.86045G>C (TTN) | ENSP00000465570.1:p.Arg28682Thr | |
| ENST00000615779.4:c.86045G>C (TTN) | ENSP00000483597.1:p.Arg28682Thr | |
| NM_001256850.1:c.86045G>C (TTN) | NP_001243779.1:p.Arg28682Thr | |
| NM_001267550.2:c.90968G>C (TTN) MANE Select | NP_001254479.2:p.Arg30323Thr | |
| NM_003319.4:c.63773G>C (TTN) | NP_003310.4:p.Arg21258Thr | |
| NM_133378.4:c.83264G>C (TTN) | NP_596869.4:p.Arg27755Thr | |
| NM_133432.3:c.64148G>C (TTN) | NP_597676.3:p.Arg21383Thr | |
| NM_133437.4:c.64349G>C (TTN) | NP_597681.4:p.Arg21450Thr | |
| NR_038271.1:n.447-19368C>G (TTN-AS1) | ||
| NR_038272.1:n.2043+9571C>G (TTN-AS1) | ||
| XM_011511729.1:c.90065G>C (TTN) | XP_011510031.1:p.Arg30022Thr | |
| XM_011511730.1:c.63959G>C (TTN) | XP_011510032.1:p.Arg21320Thr | |
| XM_011511731.1:c.63818G>C (TTN) | XP_011510033.1:p.Arg21273Thr | |
| XM_017004819.1:c.89861G>C (TTN) | XP_016860308.1:p.Arg29954Thr | |
| XM_017004820.1:c.85259G>C (TTN) | XP_016860309.1:p.Arg28420Thr | |
| XM_017004821.1:c.85256G>C (TTN) | XP_016860310.1:p.Arg28419Thr | |
| XM_017004822.1:c.82298G>C (TTN) | XP_016860311.1:p.Arg27433Thr | |
| XM_017004823.1:c.63914G>C (TTN) | XP_016860312.1:p.Arg21305Thr | |
| XM_024453094.1:c.85409G>C (TTN) | XP_024308862.1:p.Arg28470Thr | |
| XM_024453095.1:c.85406G>C (TTN) | XP_024308863.1:p.Arg28469Thr | |
| XM_024453096.1:c.84839G>C (TTN) | XP_024308864.1:p.Arg28280Thr | |
| XM_024453097.1:c.82181G>C (TTN) | XP_024308865.1:p.Arg27394Thr | |
| XM_024453098.1:c.82100G>C (TTN) | XP_024308866.1:p.Arg27367Thr | |
| XM_024453099.1:c.63863G>C (TTN) | XP_024308867.1:p.Arg21288Thr | |
| XM_024453100.1:c.53717G>C (TTN) | XP_024308868.1:p.Arg17906Thr |