Linked Data
ClinVar Variation Id:
467439
dbSNP Id:
rs370516890
ExAC:
2:179439559 C / T
gnomAD v2:
2-179439559-C-T
gnomAD v3:
2-178574832-C-T
gnomAD v4:
2-178574832-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178574832C>T , CM000664.2:g.178574832C>T | GRCh38 |
| NC_000002.11:g.179439559C>T , CM000664.1:g.179439559C>T | GRCh37 |
| NC_000002.10:g.179147805C>T | NCBI36 |
| NG_011618.3:g.260971G>A , LRG_391:g.260971G>A | |
| NG_051363.1:g.57006C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.63596G>A (TTN) | ENSP00000343764.6:p.Arg21199Gln | |
| ENST00000342175.11:c.44681G>A (TTN) | ENSP00000340554.6:p.Arg14894Gln | |
| ENST00000359218.10:c.44480G>A (TTN) | ENSP00000352154.5:p.Arg14827Gln | |
| ENST00000342175.10:c.44681G>A (TTN) | ENSP00000340554.6:p.Arg14894Gln | |
| ENST00000342992.10:c.63596G>A (TTN) | ENSP00000343764.6:p.Arg21199Gln | |
| ENST00000359218.9:c.44480G>A (TTN) | ENSP00000352154.5:p.Arg14827Gln | |
| ENST00000460472.6:c.44105G>A (TTN) | ENSP00000434586.1:p.Arg14702Gln | |
| ENST00000589042.5:c.71300G>A (TTN) MANE Select | ENSP00000467141.1:p.Arg23767Gln | |
| ENST00000591111.5:c.66377G>A (TTN) | ENSP00000465570.1:p.Arg22126Gln | |
| ENST00000615779.4:c.66377G>A (TTN) | ENSP00000483597.1:p.Arg22126Gln | |
| NM_001256850.1:c.66377G>A (TTN) | NP_001243779.1:p.Arg22126Gln | |
| NM_001267550.2:c.71300G>A (TTN) MANE Select | NP_001254479.2:p.Arg23767Gln | |
| NM_003319.4:c.44105G>A (TTN) | NP_003310.4:p.Arg14702Gln | |
| NM_133378.4:c.63596G>A (TTN) | NP_596869.4:p.Arg21199Gln | |
| NM_133432.3:c.44480G>A (TTN) | NP_597676.3:p.Arg14827Gln | |
| NM_133437.4:c.44681G>A (TTN) | NP_597681.4:p.Arg14894Gln | |
| NR_038271.1:n.596+3383C>T (TTN-AS1) | ||
| NR_038272.1:n.2044-7740C>T (TTN-AS1) | ||
| XM_011511729.1:c.70397G>A (TTN) | XP_011510031.1:p.Arg23466Gln | |
| XM_011511730.1:c.44291G>A (TTN) | XP_011510032.1:p.Arg14764Gln | |
| XM_011511731.1:c.44150G>A (TTN) | XP_011510033.1:p.Arg14717Gln | |
| XM_017004819.1:c.70193G>A (TTN) | XP_016860308.1:p.Arg23398Gln | |
| XM_017004820.1:c.65591G>A (TTN) | XP_016860309.1:p.Arg21864Gln | |
| XM_017004821.1:c.65588G>A (TTN) | XP_016860310.1:p.Arg21863Gln | |
| XM_017004822.1:c.62630G>A (TTN) | XP_016860311.1:p.Arg20877Gln | |
| XM_017004823.1:c.44246G>A (TTN) | XP_016860312.1:p.Arg14749Gln | |
| XM_024453094.1:c.65741G>A (TTN) | XP_024308862.1:p.Arg21914Gln | |
| XM_024453095.1:c.65738G>A (TTN) | XP_024308863.1:p.Arg21913Gln | |
| XM_024453096.1:c.65171G>A (TTN) | XP_024308864.1:p.Arg21724Gln | |
| XM_024453097.1:c.62513G>A (TTN) | XP_024308865.1:p.Arg20838Gln | |
| XM_024453098.1:c.62432G>A (TTN) | XP_024308866.1:p.Arg20811Gln | |
| XM_024453099.1:c.44195G>A (TTN) | XP_024308867.1:p.Arg14732Gln | |
| XM_024453100.1:c.34049G>A (TTN) | XP_024308868.1:p.Arg11350Gln |