Linked Data
ClinVar Variation Id:
413148
dbSNP Id:
rs754356257
ExAC:
2:179425438 C / T
gnomAD v2:
2-179425438-C-T
gnomAD v3:
2-178560711-C-T
gnomAD v4:
2-178560711-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178560711C>T , CM000664.2:g.178560711C>T | GRCh38 |
| NC_000002.11:g.179425438C>T , CM000664.1:g.179425438C>T | GRCh37 |
| NC_000002.10:g.179133684C>T | NCBI36 |
| NG_011618.3:g.275092G>A , LRG_391:g.275092G>A | |
| NG_051363.1:g.42885C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.77717G>A (TTN) | ENSP00000343764.6:p.Arg25906His | |
| ENST00000342175.11:c.58802G>A (TTN) | ENSP00000340554.6:p.Arg19601His | |
| ENST00000359218.10:c.58601G>A (TTN) | ENSP00000352154.5:p.Arg19534His | |
| ENST00000342175.10:c.58802G>A (TTN) | ENSP00000340554.6:p.Arg19601His | |
| ENST00000342992.10:c.77717G>A (TTN) | ENSP00000343764.6:p.Arg25906His | |
| ENST00000359218.9:c.58601G>A (TTN) | ENSP00000352154.5:p.Arg19534His | |
| ENST00000460472.6:c.58226G>A (TTN) | ENSP00000434586.1:p.Arg19409His | |
| ENST00000589042.5:c.85421G>A (TTN) MANE Select | ENSP00000467141.1:p.Arg28474His | |
| ENST00000591111.5:c.80498G>A (TTN) | ENSP00000465570.1:p.Arg26833His | |
| ENST00000615779.4:c.80498G>A (TTN) | ENSP00000483597.1:p.Arg26833His | |
| NM_001256850.1:c.80498G>A (TTN) | NP_001243779.1:p.Arg26833His | |
| NM_001267550.2:c.85421G>A (TTN) MANE Select | NP_001254479.2:p.Arg28474His | |
| NM_003319.4:c.58226G>A (TTN) | NP_003310.4:p.Arg19409His | |
| NM_133378.4:c.77717G>A (TTN) | NP_596869.4:p.Arg25906His | |
| NM_133432.3:c.58601G>A (TTN) | NP_597676.3:p.Arg19534His | |
| NM_133437.4:c.58802G>A (TTN) | NP_597681.4:p.Arg19601His | |
| NR_038271.1:n.447-10589C>T (TTN-AS1) | ||
| NR_038272.1:n.2043+18350C>T (TTN-AS1) | ||
| XM_011511729.1:c.84518G>A (TTN) | XP_011510031.1:p.Arg28173His | |
| XM_011511730.1:c.58412G>A (TTN) | XP_011510032.1:p.Arg19471His | |
| XM_011511731.1:c.58271G>A (TTN) | XP_011510033.1:p.Arg19424His | |
| XM_017004819.1:c.84314G>A (TTN) | XP_016860308.1:p.Arg28105His | |
| XM_017004820.1:c.79712G>A (TTN) | XP_016860309.1:p.Arg26571His | |
| XM_017004821.1:c.79709G>A (TTN) | XP_016860310.1:p.Arg26570His | |
| XM_017004822.1:c.76751G>A (TTN) | XP_016860311.1:p.Arg25584His | |
| XM_017004823.1:c.58367G>A (TTN) | XP_016860312.1:p.Arg19456His | |
| XM_024453094.1:c.79862G>A (TTN) | XP_024308862.1:p.Arg26621His | |
| XM_024453095.1:c.79859G>A (TTN) | XP_024308863.1:p.Arg26620His | |
| XM_024453096.1:c.79292G>A (TTN) | XP_024308864.1:p.Arg26431His | |
| XM_024453097.1:c.76634G>A (TTN) | XP_024308865.1:p.Arg25545His | |
| XM_024453098.1:c.76553G>A (TTN) | XP_024308866.1:p.Arg25518His | |
| XM_024453099.1:c.58316G>A (TTN) | XP_024308867.1:p.Arg19439His | |
| XM_024453100.1:c.48170G>A (TTN) | XP_024308868.1:p.Arg16057His |