Linked Data
ClinVar Variation Id:
202307
dbSNP Id:
rs200835354
ExAC:
2:179476646 C / T
gnomAD v2:
2-179476646-C-T
gnomAD v3:
2-178611919-C-T
gnomAD v4:
2-178611919-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178611919C>T , CM000664.2:g.178611919C>T | GRCh38 |
| NC_000002.11:g.179476646C>T , CM000664.1:g.179476646C>T | GRCh37 |
| NC_000002.10:g.179184891C>T | NCBI36 |
| NG_011618.3:g.223884G>A , LRG_391:g.223884G>A | |
| NG_051363.1:g.94093C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.42686G>A (TTN) | ENSP00000343764.6:p.Arg14229His | |
| ENST00000342175.11:c.23771G>A (TTN) | ENSP00000340554.6:p.Arg7924His | |
| ENST00000359218.10:c.23570G>A (TTN) | ENSP00000352154.5:p.Arg7857His | |
| ENST00000342175.10:c.23771G>A (TTN) | ENSP00000340554.6:p.Arg7924His | |
| ENST00000342992.10:c.42686G>A (TTN) | ENSP00000343764.6:p.Arg14229His | |
| ENST00000359218.9:c.23570G>A (TTN) | ENSP00000352154.5:p.Arg7857His | |
| ENST00000460472.6:c.23195G>A (TTN) | ENSP00000434586.1:p.Arg7732His | |
| ENST00000589042.5:c.50390G>A (TTN) MANE Select | ENSP00000467141.1:p.Arg16797His | |
| ENST00000591111.5:c.45467G>A (TTN) | ENSP00000465570.1:p.Arg15156His | |
| ENST00000615779.4:c.45467G>A (TTN) | ENSP00000483597.1:p.Arg15156His | |
| NM_001256850.1:c.45467G>A (TTN) | NP_001243779.1:p.Arg15156His | |
| NM_001267550.2:c.50390G>A (TTN) MANE Select | NP_001254479.2:p.Arg16797His | |
| NM_003319.4:c.23195G>A (TTN) | NP_003310.4:p.Arg7732His | |
| NM_133378.4:c.42686G>A (TTN) | NP_596869.4:p.Arg14229His | |
| NM_133432.3:c.23570G>A (TTN) | NP_597676.3:p.Arg7857His | |
| NM_133437.4:c.23771G>A (TTN) | NP_597681.4:p.Arg7924His | |
| NR_038271.1:n.783-2116C>T (TTN-AS1) | ||
| XM_011511729.1:c.49487G>A (TTN) | XP_011510031.1:p.Arg16496His | |
| XM_011511730.1:c.23381G>A (TTN) | XP_011510032.1:p.Arg7794His | |
| XM_011511731.1:c.23240G>A (TTN) | XP_011510033.1:p.Arg7747His | |
| XM_017004819.1:c.49283G>A (TTN) | XP_016860308.1:p.Arg16428His | |
| XM_017004820.1:c.44681G>A (TTN) | XP_016860309.1:p.Arg14894His | |
| XM_017004821.1:c.44678G>A (TTN) | XP_016860310.1:p.Arg14893His | |
| XM_017004822.1:c.41720G>A (TTN) | XP_016860311.1:p.Arg13907His | |
| XM_017004823.1:c.23336G>A (TTN) | XP_016860312.1:p.Arg7779His | |
| XM_024453094.1:c.44831G>A (TTN) | XP_024308862.1:p.Arg14944His | |
| XM_024453095.1:c.44828G>A (TTN) | XP_024308863.1:p.Arg14943His | |
| XM_024453096.1:c.44261G>A (TTN) | XP_024308864.1:p.Arg14754His | |
| XM_024453097.1:c.41603G>A (TTN) | XP_024308865.1:p.Arg13868His | |
| XM_024453098.1:c.41522G>A (TTN) | XP_024308866.1:p.Arg13841His | |
| XM_024453099.1:c.23285G>A (TTN) | XP_024308867.1:p.Arg7762His | |
| XM_024453100.1:c.13139G>A (TTN) | XP_024308868.1:p.Arg4380His |