Linked Data
ClinVar Variation Id:
191863
ClinVar RCV Id:
RCV000172213
RCV000477224
RCV001129071
RCV001129072
RCV001129068
RCV001129069
RCV001129070
RCV002354436
RCV002271446
dbSNP Id:
rs373738818
ExAC:
2:179421596 T / C
gnomAD v2:
2-179421596-T-C
gnomAD v3:
2-178556869-T-C
gnomAD v4:
2-178556869-T-C
PubMed:
PMID:23861362
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178556869T>C , CM000664.2:g.178556869T>C | GRCh38 |
| NC_000002.11:g.179421596T>C , CM000664.1:g.179421596T>C | GRCh37 |
| NC_000002.10:g.179129842T>C | NCBI36 |
| NG_011618.3:g.278934A>G , LRG_391:g.278934A>G | |
| NG_051363.1:g.39043T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.80581A>G (TTN) | ENSP00000343764.6:p.Ile26861Val | |
| ENST00000342175.11:c.61666A>G (TTN) | ENSP00000340554.6:p.Ile20556Val | |
| ENST00000359218.10:c.61465A>G (TTN) | ENSP00000352154.5:p.Ile20489Val | |
| ENST00000342175.10:c.61666A>G (TTN) | ENSP00000340554.6:p.Ile20556Val | |
| ENST00000342992.10:c.80581A>G (TTN) | ENSP00000343764.6:p.Ile26861Val | |
| ENST00000359218.9:c.61465A>G (TTN) | ENSP00000352154.5:p.Ile20489Val | |
| ENST00000460472.6:c.61090A>G (TTN) | ENSP00000434586.1:p.Ile20364Val | |
| ENST00000589042.5:c.88285A>G (TTN) MANE Select | ENSP00000467141.1:p.Ile29429Val | |
| ENST00000591111.5:c.83362A>G (TTN) | ENSP00000465570.1:p.Ile27788Val | |
| ENST00000615779.4:c.83362A>G (TTN) | ENSP00000483597.1:p.Ile27788Val | |
| NM_001256850.1:c.83362A>G (TTN) | NP_001243779.1:p.Ile27788Val | |
| NM_001267550.2:c.88285A>G (TTN) MANE Select | NP_001254479.2:p.Ile29429Val | |
| NM_003319.4:c.61090A>G (TTN) | NP_003310.4:p.Ile20364Val | |
| NM_133378.4:c.80581A>G (TTN) | NP_596869.4:p.Ile26861Val | |
| NM_133432.3:c.61465A>G (TTN) | NP_597676.3:p.Ile20489Val | |
| NM_133437.4:c.61666A>G (TTN) | NP_597681.4:p.Ile20556Val | |
| NR_038271.1:n.447-14431T>C (TTN-AS1) | ||
| NR_038272.1:n.2043+14508T>C (TTN-AS1) | ||
| XM_011511729.1:c.87382A>G (TTN) | XP_011510031.1:p.Ile29128Val | |
| XM_011511730.1:c.61276A>G (TTN) | XP_011510032.1:p.Ile20426Val | |
| XM_011511731.1:c.61135A>G (TTN) | XP_011510033.1:p.Ile20379Val | |
| XM_017004819.1:c.87178A>G (TTN) | XP_016860308.1:p.Ile29060Val | |
| XM_017004820.1:c.82576A>G (TTN) | XP_016860309.1:p.Ile27526Val | |
| XM_017004821.1:c.82573A>G (TTN) | XP_016860310.1:p.Ile27525Val | |
| XM_017004822.1:c.79615A>G (TTN) | XP_016860311.1:p.Ile26539Val | |
| XM_017004823.1:c.61231A>G (TTN) | XP_016860312.1:p.Ile20411Val | |
| XM_024453094.1:c.82726A>G (TTN) | XP_024308862.1:p.Ile27576Val | |
| XM_024453095.1:c.82723A>G (TTN) | XP_024308863.1:p.Ile27575Val | |
| XM_024453096.1:c.82156A>G (TTN) | XP_024308864.1:p.Ile27386Val | |
| XM_024453097.1:c.79498A>G (TTN) | XP_024308865.1:p.Ile26500Val | |
| XM_024453098.1:c.79417A>G (TTN) | XP_024308866.1:p.Ile26473Val | |
| XM_024453099.1:c.61180A>G (TTN) | XP_024308867.1:p.Ile20394Val | |
| XM_024453100.1:c.51034A>G (TTN) | XP_024308868.1:p.Ile17012Val |