Linked Data
ClinVar Variation Id:
466741
dbSNP Id:
rs771136390
ExAC:
2:179395734 A / G
gnomAD v2:
2-179395734-A-G
gnomAD v3:
2-178531007-A-G
gnomAD v4:
2-178531007-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178531007A>G , CM000664.2:g.178531007A>G | GRCh38 |
| NC_000002.11:g.179395734A>G , CM000664.1:g.179395734A>G | GRCh37 |
| NC_000002.10:g.179103980A>G | NCBI36 |
| NG_011618.3:g.304796T>C , LRG_391:g.304796T>C | |
| NG_051363.1:g.13181A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.97904T>C (TTN) | ENSP00000343764.6:p.Val32635Ala | |
| ENST00000342175.11:c.78989T>C (TTN) | ENSP00000340554.6:p.Val26330Ala | |
| ENST00000359218.10:c.78788T>C (TTN) | ENSP00000352154.5:p.Val26263Ala | |
| ENST00000342175.10:c.78989T>C (TTN) | ENSP00000340554.6:p.Val26330Ala | |
| ENST00000342992.10:c.97904T>C (TTN) | ENSP00000343764.6:p.Val32635Ala | |
| ENST00000359218.9:c.78788T>C (TTN) | ENSP00000352154.5:p.Val26263Ala | |
| ENST00000460472.6:c.78413T>C (TTN) | ENSP00000434586.1:p.Val26138Ala | |
| ENST00000589042.5:c.105608T>C (TTN) MANE Select | ENSP00000467141.1:p.Val35203Ala | |
| ENST00000591111.5:c.100685T>C (TTN) | ENSP00000465570.1:p.Val33562Ala | |
| ENST00000615779.4:c.100685T>C (TTN) | ENSP00000483597.1:p.Val33562Ala | |
| NM_001256850.1:c.100685T>C (TTN) | NP_001243779.1:p.Val33562Ala | |
| NM_001267550.2:c.105608T>C (TTN) MANE Select | NP_001254479.2:p.Val35203Ala | |
| NM_003319.4:c.78413T>C (TTN) | NP_003310.4:p.Val26138Ala | |
| NM_133378.4:c.97904T>C (TTN) | NP_596869.4:p.Val32635Ala | |
| NM_133432.3:c.78788T>C (TTN) | NP_597676.3:p.Val26263Ala | |
| NM_133437.4:c.78989T>C (TTN) | NP_597681.4:p.Val26330Ala | |
| NR_038271.1:n.446+7371A>G (TTN-AS1) | ||
| NR_038272.1:n.220-4725A>G (TTN-AS1) | ||
| XM_011511729.1:c.104705T>C (TTN) | XP_011510031.1:p.Val34902Ala | |
| XM_011511730.1:c.78599T>C (TTN) | XP_011510032.1:p.Val26200Ala | |
| XM_011511731.1:c.78458T>C (TTN) | XP_011510033.1:p.Val26153Ala | |
| XM_017004819.1:c.104501T>C (TTN) | XP_016860308.1:p.Val34834Ala | |
| XM_017004820.1:c.99899T>C (TTN) | XP_016860309.1:p.Val33300Ala | |
| XM_017004821.1:c.99896T>C (TTN) | XP_016860310.1:p.Val33299Ala | |
| XM_017004822.1:c.96938T>C (TTN) | XP_016860311.1:p.Val32313Ala | |
| XM_017004823.1:c.78554T>C (TTN) | XP_016860312.1:p.Val26185Ala | |
| XM_024453094.1:c.100049T>C (TTN) | XP_024308862.1:p.Val33350Ala | |
| XM_024453095.1:c.100046T>C (TTN) | XP_024308863.1:p.Val33349Ala | |
| XM_024453096.1:c.99479T>C (TTN) | XP_024308864.1:p.Val33160Ala | |
| XM_024453097.1:c.96821T>C (TTN) | XP_024308865.1:p.Val32274Ala | |
| XM_024453098.1:c.96740T>C (TTN) | XP_024308866.1:p.Val32247Ala | |
| XM_024453099.1:c.78503T>C (TTN) | XP_024308867.1:p.Val26168Ala | |
| XM_024453100.1:c.68357T>C (TTN) | XP_024308868.1:p.Val22786Ala |