Linked Data
ClinVar Variation Id:
332789
dbSNP Id:
rs553796385
ExAC:
2:179439026 A / G
gnomAD v2:
2-179439026-A-G
gnomAD v3:
2-178574299-A-G
gnomAD v4:
2-178574299-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178574299A>G , CM000664.2:g.178574299A>G | GRCh38 |
| NC_000002.11:g.179439026A>G , CM000664.1:g.179439026A>G | GRCh37 |
| NC_000002.10:g.179147272A>G | NCBI36 |
| NG_011618.3:g.261504T>C , LRG_391:g.261504T>C | |
| NG_051363.1:g.56473A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.64129T>C (TTN) | ENSP00000343764.6:p.Trp21377Arg | |
| ENST00000342175.11:c.45214T>C (TTN) | ENSP00000340554.6:p.Trp15072Arg | |
| ENST00000359218.10:c.45013T>C (TTN) | ENSP00000352154.5:p.Trp15005Arg | |
| ENST00000342175.10:c.45214T>C (TTN) | ENSP00000340554.6:p.Trp15072Arg | |
| ENST00000342992.10:c.64129T>C (TTN) | ENSP00000343764.6:p.Trp21377Arg | |
| ENST00000359218.9:c.45013T>C (TTN) | ENSP00000352154.5:p.Trp15005Arg | |
| ENST00000460472.6:c.44638T>C (TTN) | ENSP00000434586.1:p.Trp14880Arg | |
| ENST00000589042.5:c.71833T>C (TTN) MANE Select | ENSP00000467141.1:p.Trp23945Arg | |
| ENST00000591111.5:c.66910T>C (TTN) | ENSP00000465570.1:p.Trp22304Arg | |
| ENST00000615779.4:c.66910T>C (TTN) | ENSP00000483597.1:p.Trp22304Arg | |
| NM_001256850.1:c.66910T>C (TTN) | NP_001243779.1:p.Trp22304Arg | |
| NM_001267550.2:c.71833T>C (TTN) MANE Select | NP_001254479.2:p.Trp23945Arg | |
| NM_003319.4:c.44638T>C (TTN) | NP_003310.4:p.Trp14880Arg | |
| NM_133378.4:c.64129T>C (TTN) | NP_596869.4:p.Trp21377Arg | |
| NM_133432.3:c.45013T>C (TTN) | NP_597676.3:p.Trp15005Arg | |
| NM_133437.4:c.45214T>C (TTN) | NP_597681.4:p.Trp15072Arg | |
| NR_038271.1:n.596+2850A>G (TTN-AS1) | ||
| NR_038272.1:n.2044-8273A>G (TTN-AS1) | ||
| XM_011511729.1:c.70930T>C (TTN) | XP_011510031.1:p.Trp23644Arg | |
| XM_011511730.1:c.44824T>C (TTN) | XP_011510032.1:p.Trp14942Arg | |
| XM_011511731.1:c.44683T>C (TTN) | XP_011510033.1:p.Trp14895Arg | |
| XM_017004819.1:c.70726T>C (TTN) | XP_016860308.1:p.Trp23576Arg | |
| XM_017004820.1:c.66124T>C (TTN) | XP_016860309.1:p.Trp22042Arg | |
| XM_017004821.1:c.66121T>C (TTN) | XP_016860310.1:p.Trp22041Arg | |
| XM_017004822.1:c.63163T>C (TTN) | XP_016860311.1:p.Trp21055Arg | |
| XM_017004823.1:c.44779T>C (TTN) | XP_016860312.1:p.Trp14927Arg | |
| XM_024453094.1:c.66274T>C (TTN) | XP_024308862.1:p.Trp22092Arg | |
| XM_024453095.1:c.66271T>C (TTN) | XP_024308863.1:p.Trp22091Arg | |
| XM_024453096.1:c.65704T>C (TTN) | XP_024308864.1:p.Trp21902Arg | |
| XM_024453097.1:c.63046T>C (TTN) | XP_024308865.1:p.Trp21016Arg | |
| XM_024453098.1:c.62965T>C (TTN) | XP_024308866.1:p.Trp20989Arg | |
| XM_024453099.1:c.44728T>C (TTN) | XP_024308867.1:p.Trp14910Arg | |
| XM_024453100.1:c.34582T>C (TTN) | XP_024308868.1:p.Trp11528Arg |