Linked Data
ClinVar Variation Id:
191917
dbSNP Id:
rs187257105
ExAC:
2:179446710 C / T
gnomAD v2:
2-179446710-C-T
gnomAD v3:
2-178581983-C-T
gnomAD v4:
2-178581983-C-T
PubMed:
PMID:23861362
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178581983C>T , CM000664.2:g.178581983C>T | GRCh38 |
| NC_000002.11:g.179446710C>T , CM000664.1:g.179446710C>T | GRCh37 |
| NC_000002.10:g.179154956C>T | NCBI36 |
| NG_011618.3:g.253820G>A , LRG_391:g.253820G>A | |
| NG_051363.1:g.64157C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.58682G>A (TTN) | ENSP00000343764.6:p.Arg19561His | |
| ENST00000342175.11:c.39767G>A (TTN) | ENSP00000340554.6:p.Arg13256His | |
| ENST00000359218.10:c.39566G>A (TTN) | ENSP00000352154.5:p.Arg13189His | |
| ENST00000342175.10:c.39767G>A (TTN) | ENSP00000340554.6:p.Arg13256His | |
| ENST00000342992.10:c.58682G>A (TTN) | ENSP00000343764.6:p.Arg19561His | |
| ENST00000359218.9:c.39566G>A (TTN) | ENSP00000352154.5:p.Arg13189His | |
| ENST00000460472.6:c.39191G>A (TTN) | ENSP00000434586.1:p.Arg13064His | |
| ENST00000589042.5:c.66386G>A (TTN) MANE Select | ENSP00000467141.1:p.Arg22129His | |
| ENST00000591111.5:c.61463G>A (TTN) | ENSP00000465570.1:p.Arg20488His | |
| ENST00000615779.4:c.61463G>A (TTN) | ENSP00000483597.1:p.Arg20488His | |
| NM_001256850.1:c.61463G>A (TTN) | NP_001243779.1:p.Arg20488His | |
| NM_001267550.2:c.66386G>A (TTN) MANE Select | NP_001254479.2:p.Arg22129His | |
| NM_003319.4:c.39191G>A (TTN) | NP_003310.4:p.Arg13064His | |
| NM_133378.4:c.58682G>A (TTN) | NP_596869.4:p.Arg19561His | |
| NM_133432.3:c.39566G>A (TTN) | NP_597676.3:p.Arg13189His | |
| NM_133437.4:c.39767G>A (TTN) | NP_597681.4:p.Arg13256His | |
| NR_038271.1:n.596+10534C>T (TTN-AS1) | ||
| NR_038272.1:n.2044-589C>T (TTN-AS1) | ||
| XM_011511729.1:c.65483G>A (TTN) | XP_011510031.1:p.Arg21828His | |
| XM_011511730.1:c.39377G>A (TTN) | XP_011510032.1:p.Arg13126His | |
| XM_011511731.1:c.39236G>A (TTN) | XP_011510033.1:p.Arg13079His | |
| XM_017004819.1:c.65279G>A (TTN) | XP_016860308.1:p.Arg21760His | |
| XM_017004820.1:c.60677G>A (TTN) | XP_016860309.1:p.Arg20226His | |
| XM_017004821.1:c.60674G>A (TTN) | XP_016860310.1:p.Arg20225His | |
| XM_017004822.1:c.57716G>A (TTN) | XP_016860311.1:p.Arg19239His | |
| XM_017004823.1:c.39332G>A (TTN) | XP_016860312.1:p.Arg13111His | |
| XM_024453094.1:c.60827G>A (TTN) | XP_024308862.1:p.Arg20276His | |
| XM_024453095.1:c.60824G>A (TTN) | XP_024308863.1:p.Arg20275His | |
| XM_024453096.1:c.60257G>A (TTN) | XP_024308864.1:p.Arg20086His | |
| XM_024453097.1:c.57599G>A (TTN) | XP_024308865.1:p.Arg19200His | |
| XM_024453098.1:c.57518G>A (TTN) | XP_024308866.1:p.Arg19173His | |
| XM_024453099.1:c.39281G>A (TTN) | XP_024308867.1:p.Arg13094His | |
| XM_024453100.1:c.29135G>A (TTN) | XP_024308868.1:p.Arg9712His |