Linked Data
ClinVar Variation Id:
229558
dbSNP Id:
rs189626540
ExAC:
2:179401077 C / T
gnomAD v2:
2-179401077-C-T
gnomAD v3:
2-178536350-C-T
gnomAD v4:
2-178536350-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178536350C>T , CM000664.2:g.178536350C>T | GRCh38 |
| NC_000002.11:g.179401077C>T , CM000664.1:g.179401077C>T | GRCh37 |
| NC_000002.10:g.179109323C>T | NCBI36 |
| NG_011618.3:g.299453G>A , LRG_391:g.299453G>A | |
| NG_051363.1:g.18524C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.92693G>A (TTN) | ENSP00000343764.6:p.Arg30898His | |
| ENST00000342175.11:c.73778G>A (TTN) | ENSP00000340554.6:p.Arg24593His | |
| ENST00000359218.10:c.73577G>A (TTN) | ENSP00000352154.5:p.Arg24526His | |
| ENST00000342175.10:c.73778G>A (TTN) | ENSP00000340554.6:p.Arg24593His | |
| ENST00000342992.10:c.92693G>A (TTN) | ENSP00000343764.6:p.Arg30898His | |
| ENST00000359218.9:c.73577G>A (TTN) | ENSP00000352154.5:p.Arg24526His | |
| ENST00000460472.6:c.73202G>A (TTN) | ENSP00000434586.1:p.Arg24401His | |
| ENST00000589042.5:c.100397G>A (TTN) MANE Select | ENSP00000467141.1:p.Arg33466His | |
| ENST00000591111.5:c.95474G>A (TTN) | ENSP00000465570.1:p.Arg31825His | |
| ENST00000615779.4:c.95474G>A (TTN) | ENSP00000483597.1:p.Arg31825His | |
| NM_001256850.1:c.95474G>A (TTN) | NP_001243779.1:p.Arg31825His | |
| NM_001267550.2:c.100397G>A (TTN) MANE Select | NP_001254479.2:p.Arg33466His | |
| NM_003319.4:c.73202G>A (TTN) | NP_003310.4:p.Arg24401His | |
| NM_133378.4:c.92693G>A (TTN) | NP_596869.4:p.Arg30898His | |
| NM_133432.3:c.73577G>A (TTN) | NP_597676.3:p.Arg24526His | |
| NM_133437.4:c.73778G>A (TTN) | NP_597681.4:p.Arg24593His | |
| NR_038271.1:n.446+12714C>T (TTN-AS1) | ||
| NR_038272.1:n.316+522C>T (TTN-AS1) | ||
| XM_011511729.1:c.99494G>A (TTN) | XP_011510031.1:p.Arg33165His | |
| XM_011511730.1:c.73388G>A (TTN) | XP_011510032.1:p.Arg24463His | |
| XM_011511731.1:c.73247G>A (TTN) | XP_011510033.1:p.Arg24416His | |
| XM_017004819.1:c.99290G>A (TTN) | XP_016860308.1:p.Arg33097His | |
| XM_017004820.1:c.94688G>A (TTN) | XP_016860309.1:p.Arg31563His | |
| XM_017004821.1:c.94685G>A (TTN) | XP_016860310.1:p.Arg31562His | |
| XM_017004822.1:c.91727G>A (TTN) | XP_016860311.1:p.Arg30576His | |
| XM_017004823.1:c.73343G>A (TTN) | XP_016860312.1:p.Arg24448His | |
| XM_024453094.1:c.94838G>A (TTN) | XP_024308862.1:p.Arg31613His | |
| XM_024453095.1:c.94835G>A (TTN) | XP_024308863.1:p.Arg31612His | |
| XM_024453096.1:c.94268G>A (TTN) | XP_024308864.1:p.Arg31423His | |
| XM_024453097.1:c.91610G>A (TTN) | XP_024308865.1:p.Arg30537His | |
| XM_024453098.1:c.91529G>A (TTN) | XP_024308866.1:p.Arg30510His | |
| XM_024453099.1:c.73292G>A (TTN) | XP_024308867.1:p.Arg24431His | |
| XM_024453100.1:c.63146G>A (TTN) | XP_024308868.1:p.Arg21049His |