Linked Data
ClinVar Variation Id:
47634
ClinVar RCV Id:
RCV000040903
RCV000226035
RCV000620304
RCV001081693
RCV001128954
RCV001131612
RCV001128955
RCV001128953
RCV001131611
RCV001170519
dbSNP Id:
rs201554140
ExAC:
2:179400097 C / T
gnomAD v2:
2-179400097-C-T
gnomAD v3:
2-178535370-C-T
gnomAD v4:
2-178535370-C-T
PubMed:
PMID:24558114
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178535370C>T , CM000664.2:g.178535370C>T | GRCh38 |
| NC_000002.11:g.179400097C>T , CM000664.1:g.179400097C>T | GRCh37 |
| NC_000002.10:g.179108343C>T | NCBI36 |
| NG_011618.3:g.300433G>A , LRG_391:g.300433G>A | |
| NG_051363.1:g.17544C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.93541G>A (TTN) | ENSP00000343764.6:p.Val31181Met | |
| ENST00000342175.11:c.74626G>A (TTN) | ENSP00000340554.6:p.Val24876Met | |
| ENST00000359218.10:c.74425G>A (TTN) | ENSP00000352154.5:p.Val24809Met | |
| ENST00000342175.10:c.74626G>A (TTN) | ENSP00000340554.6:p.Val24876Met | |
| ENST00000342992.10:c.93541G>A (TTN) | ENSP00000343764.6:p.Val31181Met | |
| ENST00000359218.9:c.74425G>A (TTN) | ENSP00000352154.5:p.Val24809Met | |
| ENST00000460472.6:c.74050G>A (TTN) | ENSP00000434586.1:p.Val24684Met | |
| ENST00000589042.5:c.101245G>A (TTN) MANE Select | ENSP00000467141.1:p.Val33749Met | |
| ENST00000591111.5:c.96322G>A (TTN) | ENSP00000465570.1:p.Val32108Met | |
| ENST00000615779.4:c.96322G>A (TTN) | ENSP00000483597.1:p.Val32108Met | |
| NM_001256850.1:c.96322G>A (TTN) | NP_001243779.1:p.Val32108Met | |
| NM_001267550.2:c.101245G>A (TTN) MANE Select | NP_001254479.2:p.Val33749Met | |
| NM_003319.4:c.74050G>A (TTN) | NP_003310.4:p.Val24684Met | |
| NM_133378.4:c.93541G>A (TTN) | NP_596869.4:p.Val31181Met | |
| NM_133432.3:c.74425G>A (TTN) | NP_597676.3:p.Val24809Met | |
| NM_133437.4:c.74626G>A (TTN) | NP_597681.4:p.Val24876Met | |
| NR_038271.1:n.446+11734C>T (TTN-AS1) | ||
| NR_038272.1:n.220-362C>T (TTN-AS1) | ||
| XM_011511729.1:c.100342G>A (TTN) | XP_011510031.1:p.Val33448Met | |
| XM_011511730.1:c.74236G>A (TTN) | XP_011510032.1:p.Val24746Met | |
| XM_011511731.1:c.74095G>A (TTN) | XP_011510033.1:p.Val24699Met | |
| XM_017004819.1:c.100138G>A (TTN) | XP_016860308.1:p.Val33380Met | |
| XM_017004820.1:c.95536G>A (TTN) | XP_016860309.1:p.Val31846Met | |
| XM_017004821.1:c.95533G>A (TTN) | XP_016860310.1:p.Val31845Met | |
| XM_017004822.1:c.92575G>A (TTN) | XP_016860311.1:p.Val30859Met | |
| XM_017004823.1:c.74191G>A (TTN) | XP_016860312.1:p.Val24731Met | |
| XM_024453094.1:c.95686G>A (TTN) | XP_024308862.1:p.Val31896Met | |
| XM_024453095.1:c.95683G>A (TTN) | XP_024308863.1:p.Val31895Met | |
| XM_024453096.1:c.95116G>A (TTN) | XP_024308864.1:p.Val31706Met | |
| XM_024453097.1:c.92458G>A (TTN) | XP_024308865.1:p.Val30820Met | |
| XM_024453098.1:c.92377G>A (TTN) | XP_024308866.1:p.Val30793Met | |
| XM_024453099.1:c.74140G>A (TTN) | XP_024308867.1:p.Val24714Met | |
| XM_024453100.1:c.63994G>A (TTN) | XP_024308868.1:p.Val21332Met |