Linked Data
ClinVar Variation Id:
47404
dbSNP Id:
rs55850344
ExAC:
2:179428960 C / T
gnomAD v2:
2-179428960-C-T
gnomAD v3:
2-178564233-C-T
gnomAD v4:
2-178564233-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178564233C>T , CM000664.2:g.178564233C>T | GRCh38 |
| NC_000002.11:g.179428960C>T , CM000664.1:g.179428960C>T | GRCh37 |
| NC_000002.10:g.179137206C>T | NCBI36 |
| NG_011618.3:g.271570G>A , LRG_391:g.271570G>A | |
| NG_051363.1:g.46407C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.74195G>A (TTN) | ENSP00000343764.6:p.Arg24732His | |
| ENST00000342175.11:c.55280G>A (TTN) | ENSP00000340554.6:p.Arg18427His | |
| ENST00000359218.10:c.55079G>A (TTN) | ENSP00000352154.5:p.Arg18360His | |
| ENST00000342175.10:c.55280G>A (TTN) | ENSP00000340554.6:p.Arg18427His | |
| ENST00000342992.10:c.74195G>A (TTN) | ENSP00000343764.6:p.Arg24732His | |
| ENST00000359218.9:c.55079G>A (TTN) | ENSP00000352154.5:p.Arg18360His | |
| ENST00000460472.6:c.54704G>A (TTN) | ENSP00000434586.1:p.Arg18235His | |
| ENST00000589042.5:c.81899G>A (TTN) MANE Select | ENSP00000467141.1:p.Arg27300His | |
| ENST00000591111.5:c.76976G>A (TTN) | ENSP00000465570.1:p.Arg25659His | |
| ENST00000615779.4:c.76976G>A (TTN) | ENSP00000483597.1:p.Arg25659His | |
| NM_001256850.1:c.76976G>A (TTN) | NP_001243779.1:p.Arg25659His | |
| NM_001267550.2:c.81899G>A (TTN) MANE Select | NP_001254479.2:p.Arg27300His | |
| NM_003319.4:c.54704G>A (TTN) | NP_003310.4:p.Arg18235His | |
| NM_133378.4:c.74195G>A (TTN) | NP_596869.4:p.Arg24732His | |
| NM_133432.3:c.55079G>A (TTN) | NP_597676.3:p.Arg18360His | |
| NM_133437.4:c.55280G>A (TTN) | NP_597681.4:p.Arg18427His | |
| NR_038271.1:n.447-7067C>T (TTN-AS1) | ||
| NR_038272.1:n.2044-18339C>T (TTN-AS1) | ||
| XM_011511729.1:c.80996G>A (TTN) | XP_011510031.1:p.Arg26999His | |
| XM_011511730.1:c.54890G>A (TTN) | XP_011510032.1:p.Arg18297His | |
| XM_011511731.1:c.54749G>A (TTN) | XP_011510033.1:p.Arg18250His | |
| XM_017004819.1:c.80792G>A (TTN) | XP_016860308.1:p.Arg26931His | |
| XM_017004820.1:c.76190G>A (TTN) | XP_016860309.1:p.Arg25397His | |
| XM_017004821.1:c.76187G>A (TTN) | XP_016860310.1:p.Arg25396His | |
| XM_017004822.1:c.73229G>A (TTN) | XP_016860311.1:p.Arg24410His | |
| XM_017004823.1:c.54845G>A (TTN) | XP_016860312.1:p.Arg18282His | |
| XM_024453094.1:c.76340G>A (TTN) | XP_024308862.1:p.Arg25447His | |
| XM_024453095.1:c.76337G>A (TTN) | XP_024308863.1:p.Arg25446His | |
| XM_024453096.1:c.75770G>A (TTN) | XP_024308864.1:p.Arg25257His | |
| XM_024453097.1:c.73112G>A (TTN) | XP_024308865.1:p.Arg24371His | |
| XM_024453098.1:c.73031G>A (TTN) | XP_024308866.1:p.Arg24344His | |
| XM_024453099.1:c.54794G>A (TTN) | XP_024308867.1:p.Arg18265His | |
| XM_024453100.1:c.44648G>A (TTN) | XP_024308868.1:p.Arg14883His |