Linked Data
ClinVar Variation Id:
229453
dbSNP Id:
rs142395261
ExAC:
2:179474482 C / T
gnomAD v2:
2-179474482-C-T
gnomAD v3:
2-178609755-C-T
gnomAD v4:
2-178609755-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178609755C>T , CM000664.2:g.178609755C>T | GRCh38 |
| NC_000002.11:g.179474482C>T , CM000664.1:g.179474482C>T | GRCh37 |
| NC_000002.10:g.179182727C>T | NCBI36 |
| NG_011618.3:g.226048G>A , LRG_391:g.226048G>A | |
| NG_051363.1:g.91929C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.43964G>A (TTN) | ENSP00000343764.6:p.Arg14655Gln | |
| ENST00000342175.11:c.25049G>A (TTN) | ENSP00000340554.6:p.Arg8350Gln | |
| ENST00000359218.10:c.24848G>A (TTN) | ENSP00000352154.5:p.Arg8283Gln | |
| ENST00000342175.10:c.25049G>A (TTN) | ENSP00000340554.6:p.Arg8350Gln | |
| ENST00000342992.10:c.43964G>A (TTN) | ENSP00000343764.6:p.Arg14655Gln | |
| ENST00000359218.9:c.24848G>A (TTN) | ENSP00000352154.5:p.Arg8283Gln | |
| ENST00000460472.6:c.24473G>A (TTN) | ENSP00000434586.1:p.Arg8158Gln | |
| ENST00000589042.5:c.51668G>A (TTN) MANE Select | ENSP00000467141.1:p.Arg17223Gln | |
| ENST00000591111.5:c.46745G>A (TTN) | ENSP00000465570.1:p.Arg15582Gln | |
| ENST00000615779.4:c.46745G>A (TTN) | ENSP00000483597.1:p.Arg15582Gln | |
| NM_001256850.1:c.46745G>A (TTN) | NP_001243779.1:p.Arg15582Gln | |
| NM_001267550.2:c.51668G>A (TTN) MANE Select | NP_001254479.2:p.Arg17223Gln | |
| NM_003319.4:c.24473G>A (TTN) | NP_003310.4:p.Arg8158Gln | |
| NM_133378.4:c.43964G>A (TTN) | NP_596869.4:p.Arg14655Gln | |
| NM_133432.3:c.24848G>A (TTN) | NP_597676.3:p.Arg8283Gln | |
| NM_133437.4:c.25049G>A (TTN) | NP_597681.4:p.Arg8350Gln | |
| NR_038271.1:n.782+1489C>T (TTN-AS1) | ||
| XM_011511729.1:c.50765G>A (TTN) | XP_011510031.1:p.Arg16922Gln | |
| XM_011511730.1:c.24659G>A (TTN) | XP_011510032.1:p.Arg8220Gln | |
| XM_011511731.1:c.24518G>A (TTN) | XP_011510033.1:p.Arg8173Gln | |
| XM_017004819.1:c.50561G>A (TTN) | XP_016860308.1:p.Arg16854Gln | |
| XM_017004820.1:c.45959G>A (TTN) | XP_016860309.1:p.Arg15320Gln | |
| XM_017004821.1:c.45956G>A (TTN) | XP_016860310.1:p.Arg15319Gln | |
| XM_017004822.1:c.42998G>A (TTN) | XP_016860311.1:p.Arg14333Gln | |
| XM_017004823.1:c.24614G>A (TTN) | XP_016860312.1:p.Arg8205Gln | |
| XM_024453094.1:c.46109G>A (TTN) | XP_024308862.1:p.Arg15370Gln | |
| XM_024453095.1:c.46106G>A (TTN) | XP_024308863.1:p.Arg15369Gln | |
| XM_024453096.1:c.45539G>A (TTN) | XP_024308864.1:p.Arg15180Gln | |
| XM_024453097.1:c.42881G>A (TTN) | XP_024308865.1:p.Arg14294Gln | |
| XM_024453098.1:c.42800G>A (TTN) | XP_024308866.1:p.Arg14267Gln | |
| XM_024453099.1:c.24563G>A (TTN) | XP_024308867.1:p.Arg8188Gln | |
| XM_024453100.1:c.14417G>A (TTN) | XP_024308868.1:p.Arg4806Gln |