Linked Data
ClinVar Variation Id:
404846
dbSNP Id:
rs776018262
ExAC:
2:179413174 C / T
gnomAD v2:
2-179413174-C-T
gnomAD v3:
2-178548447-C-T
gnomAD v4:
2-178548447-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178548447C>T , CM000664.2:g.178548447C>T | GRCh38 |
| NC_000002.11:g.179413174C>T , CM000664.1:g.179413174C>T | GRCh37 |
| NC_000002.10:g.179121420C>T | NCBI36 |
| NG_011618.3:g.287356G>A , LRG_391:g.287356G>A | |
| NG_051363.1:g.30621C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.85475G>A (TTN) | ENSP00000343764.6:p.Arg28492His | |
| ENST00000342175.11:c.66560G>A (TTN) | ENSP00000340554.6:p.Arg22187His | |
| ENST00000359218.10:c.66359G>A (TTN) | ENSP00000352154.5:p.Arg22120His | |
| ENST00000342175.10:c.66560G>A (TTN) | ENSP00000340554.6:p.Arg22187His | |
| ENST00000342992.10:c.85475G>A (TTN) | ENSP00000343764.6:p.Arg28492His | |
| ENST00000359218.9:c.66359G>A (TTN) | ENSP00000352154.5:p.Arg22120His | |
| ENST00000460472.6:c.65984G>A (TTN) | ENSP00000434586.1:p.Arg21995His | |
| ENST00000589042.5:c.93179G>A (TTN) MANE Select | ENSP00000467141.1:p.Arg31060His | |
| ENST00000591111.5:c.88256G>A (TTN) | ENSP00000465570.1:p.Arg29419His | |
| ENST00000615779.4:c.88256G>A (TTN) | ENSP00000483597.1:p.Arg29419His | |
| NM_001256850.1:c.88256G>A (TTN) | NP_001243779.1:p.Arg29419His | |
| NM_001267550.2:c.93179G>A (TTN) MANE Select | NP_001254479.2:p.Arg31060His | |
| NM_003319.4:c.65984G>A (TTN) | NP_003310.4:p.Arg21995His | |
| NM_133378.4:c.85475G>A (TTN) | NP_596869.4:p.Arg28492His | |
| NM_133432.3:c.66359G>A (TTN) | NP_597676.3:p.Arg22120His | |
| NM_133437.4:c.66560G>A (TTN) | NP_597681.4:p.Arg22187His | |
| NR_038271.1:n.447-22853C>T (TTN-AS1) | ||
| NR_038272.1:n.2043+6086C>T (TTN-AS1) | ||
| XM_011511729.1:c.92276G>A (TTN) | XP_011510031.1:p.Arg30759His | |
| XM_011511730.1:c.66170G>A (TTN) | XP_011510032.1:p.Arg22057His | |
| XM_011511731.1:c.66029G>A (TTN) | XP_011510033.1:p.Arg22010His | |
| XM_017004819.1:c.92072G>A (TTN) | XP_016860308.1:p.Arg30691His | |
| XM_017004820.1:c.87470G>A (TTN) | XP_016860309.1:p.Arg29157His | |
| XM_017004821.1:c.87467G>A (TTN) | XP_016860310.1:p.Arg29156His | |
| XM_017004822.1:c.84509G>A (TTN) | XP_016860311.1:p.Arg28170His | |
| XM_017004823.1:c.66125G>A (TTN) | XP_016860312.1:p.Arg22042His | |
| XM_024453094.1:c.87620G>A (TTN) | XP_024308862.1:p.Arg29207His | |
| XM_024453095.1:c.87617G>A (TTN) | XP_024308863.1:p.Arg29206His | |
| XM_024453096.1:c.87050G>A (TTN) | XP_024308864.1:p.Arg29017His | |
| XM_024453097.1:c.84392G>A (TTN) | XP_024308865.1:p.Arg28131His | |
| XM_024453098.1:c.84311G>A (TTN) | XP_024308866.1:p.Arg28104His | |
| XM_024453099.1:c.66074G>A (TTN) | XP_024308867.1:p.Arg22025His | |
| XM_024453100.1:c.55928G>A (TTN) | XP_024308868.1:p.Arg18643His |