Linked Data
ClinVar Variation Id:
196070
ClinVar RCV Id:
RCV000176798
RCV000284771
RCV000287638
RCV002345609
RCV000327344
RCV000342639
RCV000401115
RCV000464328
RCV001778772
dbSNP Id:
rs371362606
ExAC:
2:179430005 C / T
gnomAD v2:
2-179430005-C-T
gnomAD v3:
2-178565278-C-T
gnomAD v4:
2-178565278-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178565278C>T , CM000664.2:g.178565278C>T | GRCh38 |
| NC_000002.11:g.179430005C>T , CM000664.1:g.179430005C>T | GRCh37 |
| NC_000002.10:g.179138251C>T | NCBI36 |
| NG_011618.3:g.270525G>A , LRG_391:g.270525G>A | |
| NG_051363.1:g.47452C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.73150G>A (TTN) | ENSP00000343764.6:p.Val24384Ile | |
| ENST00000342175.11:c.54235G>A (TTN) | ENSP00000340554.6:p.Val18079Ile | |
| ENST00000359218.10:c.54034G>A (TTN) | ENSP00000352154.5:p.Val18012Ile | |
| ENST00000342175.10:c.54235G>A (TTN) | ENSP00000340554.6:p.Val18079Ile | |
| ENST00000342992.10:c.73150G>A (TTN) | ENSP00000343764.6:p.Val24384Ile | |
| ENST00000359218.9:c.54034G>A (TTN) | ENSP00000352154.5:p.Val18012Ile | |
| ENST00000460472.6:c.53659G>A (TTN) | ENSP00000434586.1:p.Val17887Ile | |
| ENST00000589042.5:c.80854G>A (TTN) MANE Select | ENSP00000467141.1:p.Val26952Ile | |
| ENST00000591111.5:c.75931G>A (TTN) | ENSP00000465570.1:p.Val25311Ile | |
| ENST00000615779.4:c.75931G>A (TTN) | ENSP00000483597.1:p.Val25311Ile | |
| NM_001256850.1:c.75931G>A (TTN) | NP_001243779.1:p.Val25311Ile | |
| NM_001267550.2:c.80854G>A (TTN) MANE Select | NP_001254479.2:p.Val26952Ile | |
| NM_003319.4:c.53659G>A (TTN) | NP_003310.4:p.Val17887Ile | |
| NM_133378.4:c.73150G>A (TTN) | NP_596869.4:p.Val24384Ile | |
| NM_133432.3:c.54034G>A (TTN) | NP_597676.3:p.Val18012Ile | |
| NM_133437.4:c.54235G>A (TTN) | NP_597681.4:p.Val18079Ile | |
| NR_038271.1:n.447-6022C>T (TTN-AS1) | ||
| NR_038272.1:n.2044-17294C>T (TTN-AS1) | ||
| XM_011511729.1:c.79951G>A (TTN) | XP_011510031.1:p.Val26651Ile | |
| XM_011511730.1:c.53845G>A (TTN) | XP_011510032.1:p.Val17949Ile | |
| XM_011511731.1:c.53704G>A (TTN) | XP_011510033.1:p.Val17902Ile | |
| XM_017004819.1:c.79747G>A (TTN) | XP_016860308.1:p.Val26583Ile | |
| XM_017004820.1:c.75145G>A (TTN) | XP_016860309.1:p.Val25049Ile | |
| XM_017004821.1:c.75142G>A (TTN) | XP_016860310.1:p.Val25048Ile | |
| XM_017004822.1:c.72184G>A (TTN) | XP_016860311.1:p.Val24062Ile | |
| XM_017004823.1:c.53800G>A (TTN) | XP_016860312.1:p.Val17934Ile | |
| XM_024453094.1:c.75295G>A (TTN) | XP_024308862.1:p.Val25099Ile | |
| XM_024453095.1:c.75292G>A (TTN) | XP_024308863.1:p.Val25098Ile | |
| XM_024453096.1:c.74725G>A (TTN) | XP_024308864.1:p.Val24909Ile | |
| XM_024453097.1:c.72067G>A (TTN) | XP_024308865.1:p.Val24023Ile | |
| XM_024453098.1:c.71986G>A (TTN) | XP_024308866.1:p.Val23996Ile | |
| XM_024453099.1:c.53749G>A (TTN) | XP_024308867.1:p.Val17917Ile | |
| XM_024453100.1:c.43603G>A (TTN) | XP_024308868.1:p.Val14535Ile |