Linked Data
ClinVar Variation Id:
191822
dbSNP Id:
rs757918924
ExAC:
2:179399067 C / T
gnomAD v2:
2-179399067-C-T
gnomAD v3:
2-178534340-C-T
gnomAD v4:
2-178534340-C-T
PubMed:
PMID:23861362
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178534340C>T , CM000664.2:g.178534340C>T | GRCh38 |
| NC_000002.11:g.179399067C>T , CM000664.1:g.179399067C>T | GRCh37 |
| NC_000002.10:g.179107313C>T | NCBI36 |
| NG_011618.3:g.301463G>A , LRG_391:g.301463G>A | |
| NG_051363.1:g.16514C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.94571G>A (TTN) | ENSP00000343764.6:p.Arg31524His | |
| ENST00000342175.11:c.75656G>A (TTN) | ENSP00000340554.6:p.Arg25219His | |
| ENST00000359218.10:c.75455G>A (TTN) | ENSP00000352154.5:p.Arg25152His | |
| ENST00000342175.10:c.75656G>A (TTN) | ENSP00000340554.6:p.Arg25219His | |
| ENST00000342992.10:c.94571G>A (TTN) | ENSP00000343764.6:p.Arg31524His | |
| ENST00000359218.9:c.75455G>A (TTN) | ENSP00000352154.5:p.Arg25152His | |
| ENST00000460472.6:c.75080G>A (TTN) | ENSP00000434586.1:p.Arg25027His | |
| ENST00000589042.5:c.102275G>A (TTN) MANE Select | ENSP00000467141.1:p.Arg34092His | |
| ENST00000591111.5:c.97352G>A (TTN) | ENSP00000465570.1:p.Arg32451His | |
| ENST00000615779.4:c.97352G>A (TTN) | ENSP00000483597.1:p.Arg32451His | |
| NM_001256850.1:c.97352G>A (TTN) | NP_001243779.1:p.Arg32451His | |
| NM_001267550.2:c.102275G>A (TTN) MANE Select | NP_001254479.2:p.Arg34092His | |
| NM_003319.4:c.75080G>A (TTN) | NP_003310.4:p.Arg25027His | |
| NM_133378.4:c.94571G>A (TTN) | NP_596869.4:p.Arg31524His | |
| NM_133432.3:c.75455G>A (TTN) | NP_597676.3:p.Arg25152His | |
| NM_133437.4:c.75656G>A (TTN) | NP_597681.4:p.Arg25219His | |
| NR_038271.1:n.446+10704C>T (TTN-AS1) | ||
| NR_038272.1:n.220-1392C>T (TTN-AS1) | ||
| XM_011511729.1:c.101372G>A (TTN) | XP_011510031.1:p.Arg33791His | |
| XM_011511730.1:c.75266G>A (TTN) | XP_011510032.1:p.Arg25089His | |
| XM_011511731.1:c.75125G>A (TTN) | XP_011510033.1:p.Arg25042His | |
| XM_017004819.1:c.101168G>A (TTN) | XP_016860308.1:p.Arg33723His | |
| XM_017004820.1:c.96566G>A (TTN) | XP_016860309.1:p.Arg32189His | |
| XM_017004821.1:c.96563G>A (TTN) | XP_016860310.1:p.Arg32188His | |
| XM_017004822.1:c.93605G>A (TTN) | XP_016860311.1:p.Arg31202His | |
| XM_017004823.1:c.75221G>A (TTN) | XP_016860312.1:p.Arg25074His | |
| XM_024453094.1:c.96716G>A (TTN) | XP_024308862.1:p.Arg32239His | |
| XM_024453095.1:c.96713G>A (TTN) | XP_024308863.1:p.Arg32238His | |
| XM_024453096.1:c.96146G>A (TTN) | XP_024308864.1:p.Arg32049His | |
| XM_024453097.1:c.93488G>A (TTN) | XP_024308865.1:p.Arg31163His | |
| XM_024453098.1:c.93407G>A (TTN) | XP_024308866.1:p.Arg31136His | |
| XM_024453099.1:c.75170G>A (TTN) | XP_024308867.1:p.Arg25057His | |
| XM_024453100.1:c.65024G>A (TTN) | XP_024308868.1:p.Arg21675His |