Linked Data
ClinVar Variation Id:
202822
dbSNP Id:
rs55853138
ExAC:
2:179440696 C / T
gnomAD v2:
2-179440696-C-T
gnomAD v3:
2-178575969-C-T
gnomAD v4:
2-178575969-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178575969C>T , CM000664.2:g.178575969C>T | GRCh38 |
| NC_000002.11:g.179440696C>T , CM000664.1:g.179440696C>T | GRCh37 |
| NC_000002.10:g.179148942C>T | NCBI36 |
| NG_011618.3:g.259834G>A , LRG_391:g.259834G>A | |
| NG_051363.1:g.58143C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.62459G>A (TTN) | ENSP00000343764.6:p.Arg20820Gln | |
| ENST00000342175.11:c.43544G>A (TTN) | ENSP00000340554.6:p.Arg14515Gln | |
| ENST00000359218.10:c.43343G>A (TTN) | ENSP00000352154.5:p.Arg14448Gln | |
| ENST00000342175.10:c.43544G>A (TTN) | ENSP00000340554.6:p.Arg14515Gln | |
| ENST00000342992.10:c.62459G>A (TTN) | ENSP00000343764.6:p.Arg20820Gln | |
| ENST00000359218.9:c.43343G>A (TTN) | ENSP00000352154.5:p.Arg14448Gln | |
| ENST00000460472.6:c.42968G>A (TTN) | ENSP00000434586.1:p.Arg14323Gln | |
| ENST00000589042.5:c.70163G>A (TTN) MANE Select | ENSP00000467141.1:p.Arg23388Gln | |
| ENST00000591111.5:c.65240G>A (TTN) | ENSP00000465570.1:p.Arg21747Gln | |
| ENST00000615779.4:c.65240G>A (TTN) | ENSP00000483597.1:p.Arg21747Gln | |
| NM_001256850.1:c.65240G>A (TTN) | NP_001243779.1:p.Arg21747Gln | |
| NM_001267550.2:c.70163G>A (TTN) MANE Select | NP_001254479.2:p.Arg23388Gln | |
| NM_003319.4:c.42968G>A (TTN) | NP_003310.4:p.Arg14323Gln | |
| NM_133378.4:c.62459G>A (TTN) | NP_596869.4:p.Arg20820Gln | |
| NM_133432.3:c.43343G>A (TTN) | NP_597676.3:p.Arg14448Gln | |
| NM_133437.4:c.43544G>A (TTN) | NP_597681.4:p.Arg14515Gln | |
| NR_038271.1:n.596+4520C>T (TTN-AS1) | ||
| NR_038272.1:n.2044-6603C>T (TTN-AS1) | ||
| XM_011511729.1:c.69260G>A (TTN) | XP_011510031.1:p.Arg23087Gln | |
| XM_011511730.1:c.43154G>A (TTN) | XP_011510032.1:p.Arg14385Gln | |
| XM_011511731.1:c.43013G>A (TTN) | XP_011510033.1:p.Arg14338Gln | |
| XM_017004819.1:c.69056G>A (TTN) | XP_016860308.1:p.Arg23019Gln | |
| XM_017004820.1:c.64454G>A (TTN) | XP_016860309.1:p.Arg21485Gln | |
| XM_017004821.1:c.64451G>A (TTN) | XP_016860310.1:p.Arg21484Gln | |
| XM_017004822.1:c.61493G>A (TTN) | XP_016860311.1:p.Arg20498Gln | |
| XM_017004823.1:c.43109G>A (TTN) | XP_016860312.1:p.Arg14370Gln | |
| XM_024453094.1:c.64604G>A (TTN) | XP_024308862.1:p.Arg21535Gln | |
| XM_024453095.1:c.64601G>A (TTN) | XP_024308863.1:p.Arg21534Gln | |
| XM_024453096.1:c.64034G>A (TTN) | XP_024308864.1:p.Arg21345Gln | |
| XM_024453097.1:c.61376G>A (TTN) | XP_024308865.1:p.Arg20459Gln | |
| XM_024453098.1:c.61295G>A (TTN) | XP_024308866.1:p.Arg20432Gln | |
| XM_024453099.1:c.43058G>A (TTN) | XP_024308867.1:p.Arg14353Gln | |
| XM_024453100.1:c.32912G>A (TTN) | XP_024308868.1:p.Arg10971Gln |