Linked Data
ClinVar Variation Id:
238791
dbSNP Id:
rs747224934
ExAC:
2:179476841 C / T
gnomAD v2:
2-179476841-C-T
gnomAD v3:
2-178612114-C-T
gnomAD v4:
2-178612114-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178612114C>T , CM000664.2:g.178612114C>T | GRCh38 |
| NC_000002.11:g.179476841C>T , CM000664.1:g.179476841C>T | GRCh37 |
| NC_000002.10:g.179185086C>T | NCBI36 |
| NG_011618.3:g.223689G>A , LRG_391:g.223689G>A | |
| NG_051363.1:g.94288C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.42593G>A (TTN) | ENSP00000343764.6:p.Arg14198Gln | |
| ENST00000342175.11:c.23678G>A (TTN) | ENSP00000340554.6:p.Arg7893Gln | |
| ENST00000359218.10:c.23477G>A (TTN) | ENSP00000352154.5:p.Arg7826Gln | |
| ENST00000342175.10:c.23678G>A (TTN) | ENSP00000340554.6:p.Arg7893Gln | |
| ENST00000342992.10:c.42593G>A (TTN) | ENSP00000343764.6:p.Arg14198Gln | |
| ENST00000359218.9:c.23477G>A (TTN) | ENSP00000352154.5:p.Arg7826Gln | |
| ENST00000460472.6:c.23102G>A (TTN) | ENSP00000434586.1:p.Arg7701Gln | |
| ENST00000589042.5:c.50297G>A (TTN) MANE Select | ENSP00000467141.1:p.Arg16766Gln | |
| ENST00000591111.5:c.45374G>A (TTN) | ENSP00000465570.1:p.Arg15125Gln | |
| ENST00000615779.4:c.45374G>A (TTN) | ENSP00000483597.1:p.Arg15125Gln | |
| NM_001256850.1:c.45374G>A (TTN) | NP_001243779.1:p.Arg15125Gln | |
| NM_001267550.2:c.50297G>A (TTN) MANE Select | NP_001254479.2:p.Arg16766Gln | |
| NM_003319.4:c.23102G>A (TTN) | NP_003310.4:p.Arg7701Gln | |
| NM_133378.4:c.42593G>A (TTN) | NP_596869.4:p.Arg14198Gln | |
| NM_133432.3:c.23477G>A (TTN) | NP_597676.3:p.Arg7826Gln | |
| NM_133437.4:c.23678G>A (TTN) | NP_597681.4:p.Arg7893Gln | |
| NR_038271.1:n.783-1921C>T (TTN-AS1) | ||
| XM_011511729.1:c.49394G>A (TTN) | XP_011510031.1:p.Arg16465Gln | |
| XM_011511730.1:c.23288G>A (TTN) | XP_011510032.1:p.Arg7763Gln | |
| XM_011511731.1:c.23147G>A (TTN) | XP_011510033.1:p.Arg7716Gln | |
| XM_017004819.1:c.49190G>A (TTN) | XP_016860308.1:p.Arg16397Gln | |
| XM_017004820.1:c.44588G>A (TTN) | XP_016860309.1:p.Arg14863Gln | |
| XM_017004821.1:c.44585G>A (TTN) | XP_016860310.1:p.Arg14862Gln | |
| XM_017004822.1:c.41627G>A (TTN) | XP_016860311.1:p.Arg13876Gln | |
| XM_017004823.1:c.23243G>A (TTN) | XP_016860312.1:p.Arg7748Gln | |
| XM_024453094.1:c.44738G>A (TTN) | XP_024308862.1:p.Arg14913Gln | |
| XM_024453095.1:c.44735G>A (TTN) | XP_024308863.1:p.Arg14912Gln | |
| XM_024453096.1:c.44168G>A (TTN) | XP_024308864.1:p.Arg14723Gln | |
| XM_024453097.1:c.41510G>A (TTN) | XP_024308865.1:p.Arg13837Gln | |
| XM_024453098.1:c.41429G>A (TTN) | XP_024308866.1:p.Arg13810Gln | |
| XM_024453099.1:c.23192G>A (TTN) | XP_024308867.1:p.Arg7731Gln | |
| XM_024453100.1:c.13046G>A (TTN) | XP_024308868.1:p.Arg4349Gln |