Linked Data
ClinVar Variation Id:
202987
dbSNP Id:
rs780476250
ExAC:
2:179414566 C / T
gnomAD v2:
2-179414566-C-T
gnomAD v3:
2-178549839-C-T
gnomAD v4:
2-178549839-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178549839C>T , CM000664.2:g.178549839C>T | GRCh38 |
| NC_000002.11:g.179414566C>T , CM000664.1:g.179414566C>T | GRCh37 |
| NC_000002.10:g.179122812C>T | NCBI36 |
| NG_011618.3:g.285964G>A , LRG_391:g.285964G>A | |
| NG_051363.1:g.32013C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.84179G>A (TTN) | ENSP00000343764.6:p.Arg28060Lys | |
| ENST00000342175.11:c.65264G>A (TTN) | ENSP00000340554.6:p.Arg21755Lys | |
| ENST00000359218.10:c.65063G>A (TTN) | ENSP00000352154.5:p.Arg21688Lys | |
| ENST00000342175.10:c.65264G>A (TTN) | ENSP00000340554.6:p.Arg21755Lys | |
| ENST00000342992.10:c.84179G>A (TTN) | ENSP00000343764.6:p.Arg28060Lys | |
| ENST00000359218.9:c.65063G>A (TTN) | ENSP00000352154.5:p.Arg21688Lys | |
| ENST00000460472.6:c.64688G>A (TTN) | ENSP00000434586.1:p.Arg21563Lys | |
| ENST00000589042.5:c.91883G>A (TTN) MANE Select | ENSP00000467141.1:p.Arg30628Lys | |
| ENST00000591111.5:c.86960G>A (TTN) | ENSP00000465570.1:p.Arg28987Lys | |
| ENST00000615779.4:c.86960G>A (TTN) | ENSP00000483597.1:p.Arg28987Lys | |
| NM_001256850.1:c.86960G>A (TTN) | NP_001243779.1:p.Arg28987Lys | |
| NM_001267550.2:c.91883G>A (TTN) MANE Select | NP_001254479.2:p.Arg30628Lys | |
| NM_003319.4:c.64688G>A (TTN) | NP_003310.4:p.Arg21563Lys | |
| NM_133378.4:c.84179G>A (TTN) | NP_596869.4:p.Arg28060Lys | |
| NM_133432.3:c.65063G>A (TTN) | NP_597676.3:p.Arg21688Lys | |
| NM_133437.4:c.65264G>A (TTN) | NP_597681.4:p.Arg21755Lys | |
| NR_038271.1:n.447-21461C>T (TTN-AS1) | ||
| NR_038272.1:n.2043+7478C>T (TTN-AS1) | ||
| XM_011511729.1:c.90980G>A (TTN) | XP_011510031.1:p.Arg30327Lys | |
| XM_011511730.1:c.64874G>A (TTN) | XP_011510032.1:p.Arg21625Lys | |
| XM_011511731.1:c.64733G>A (TTN) | XP_011510033.1:p.Arg21578Lys | |
| XM_017004819.1:c.90776G>A (TTN) | XP_016860308.1:p.Arg30259Lys | |
| XM_017004820.1:c.86174G>A (TTN) | XP_016860309.1:p.Arg28725Lys | |
| XM_017004821.1:c.86171G>A (TTN) | XP_016860310.1:p.Arg28724Lys | |
| XM_017004822.1:c.83213G>A (TTN) | XP_016860311.1:p.Arg27738Lys | |
| XM_017004823.1:c.64829G>A (TTN) | XP_016860312.1:p.Arg21610Lys | |
| XM_024453094.1:c.86324G>A (TTN) | XP_024308862.1:p.Arg28775Lys | |
| XM_024453095.1:c.86321G>A (TTN) | XP_024308863.1:p.Arg28774Lys | |
| XM_024453096.1:c.85754G>A (TTN) | XP_024308864.1:p.Arg28585Lys | |
| XM_024453097.1:c.83096G>A (TTN) | XP_024308865.1:p.Arg27699Lys | |
| XM_024453098.1:c.83015G>A (TTN) | XP_024308866.1:p.Arg27672Lys | |
| XM_024453099.1:c.64778G>A (TTN) | XP_024308867.1:p.Arg21593Lys | |
| XM_024453100.1:c.54632G>A (TTN) | XP_024308868.1:p.Arg18211Lys |