Linked Data
ClinVar Variation Id:
47654
dbSNP Id:
rs372716177
ExAC:
2:179398605 C / T
gnomAD v2:
2-179398605-C-T
gnomAD v3:
2-178533878-C-T
gnomAD v4:
2-178533878-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178533878C>T , CM000664.2:g.178533878C>T | GRCh38 |
| NC_000002.11:g.179398605C>T , CM000664.1:g.179398605C>T | GRCh37 |
| NC_000002.10:g.179106851C>T | NCBI36 |
| NG_011618.3:g.301925G>A , LRG_391:g.301925G>A | |
| NG_051363.1:g.16052C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.95033G>A (TTN) | ENSP00000343764.6:p.Arg31678His | |
| ENST00000342175.11:c.76118G>A (TTN) | ENSP00000340554.6:p.Arg25373His | |
| ENST00000359218.10:c.75917G>A (TTN) | ENSP00000352154.5:p.Arg25306His | |
| ENST00000342175.10:c.76118G>A (TTN) | ENSP00000340554.6:p.Arg25373His | |
| ENST00000342992.10:c.95033G>A (TTN) | ENSP00000343764.6:p.Arg31678His | |
| ENST00000359218.9:c.75917G>A (TTN) | ENSP00000352154.5:p.Arg25306His | |
| ENST00000460472.6:c.75542G>A (TTN) | ENSP00000434586.1:p.Arg25181His | |
| ENST00000589042.5:c.102737G>A (TTN) MANE Select | ENSP00000467141.1:p.Arg34246His | |
| ENST00000591111.5:c.97814G>A (TTN) | ENSP00000465570.1:p.Arg32605His | |
| ENST00000615779.4:c.97814G>A (TTN) | ENSP00000483597.1:p.Arg32605His | |
| NM_001256850.1:c.97814G>A (TTN) | NP_001243779.1:p.Arg32605His | |
| NM_001267550.2:c.102737G>A (TTN) MANE Select | NP_001254479.2:p.Arg34246His | |
| NM_003319.4:c.75542G>A (TTN) | NP_003310.4:p.Arg25181His | |
| NM_133378.4:c.95033G>A (TTN) | NP_596869.4:p.Arg31678His | |
| NM_133432.3:c.75917G>A (TTN) | NP_597676.3:p.Arg25306His | |
| NM_133437.4:c.76118G>A (TTN) | NP_597681.4:p.Arg25373His | |
| NR_038271.1:n.446+10242C>T (TTN-AS1) | ||
| NR_038272.1:n.220-1854C>T (TTN-AS1) | ||
| XM_011511729.1:c.101834G>A (TTN) | XP_011510031.1:p.Arg33945His | |
| XM_011511730.1:c.75728G>A (TTN) | XP_011510032.1:p.Arg25243His | |
| XM_011511731.1:c.75587G>A (TTN) | XP_011510033.1:p.Arg25196His | |
| XM_017004819.1:c.101630G>A (TTN) | XP_016860308.1:p.Arg33877His | |
| XM_017004820.1:c.97028G>A (TTN) | XP_016860309.1:p.Arg32343His | |
| XM_017004821.1:c.97025G>A (TTN) | XP_016860310.1:p.Arg32342His | |
| XM_017004822.1:c.94067G>A (TTN) | XP_016860311.1:p.Arg31356His | |
| XM_017004823.1:c.75683G>A (TTN) | XP_016860312.1:p.Arg25228His | |
| XM_024453094.1:c.97178G>A (TTN) | XP_024308862.1:p.Arg32393His | |
| XM_024453095.1:c.97175G>A (TTN) | XP_024308863.1:p.Arg32392His | |
| XM_024453096.1:c.96608G>A (TTN) | XP_024308864.1:p.Arg32203His | |
| XM_024453097.1:c.93950G>A (TTN) | XP_024308865.1:p.Arg31317His | |
| XM_024453098.1:c.93869G>A (TTN) | XP_024308866.1:p.Arg31290His | |
| XM_024453099.1:c.75632G>A (TTN) | XP_024308867.1:p.Arg25211His | |
| XM_024453100.1:c.65486G>A (TTN) | XP_024308868.1:p.Arg21829His |