Linked Data
ClinVar Variation Id:
132136
ClinVar RCV Id:
RCV000119024
RCV000255214
RCV001136029
RCV001136030
RCV001132648
RCV001132649
RCV001380728
dbSNP Id:
rs869320742
gnomAD v4:
2-178546049-C-G
PubMed:
PMID:24575448
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178546049C>G , CM000664.2:g.178546049C>G | GRCh38 |
| NC_000002.11:g.179410776C>G , CM000664.1:g.179410776C>G | GRCh37 |
| NC_000002.10:g.179119022C>G | NCBI36 |
| NG_011618.3:g.289754G>C , LRG_391:g.289754G>C | |
| NG_051363.1:g.28223C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.87483G>C (TTN) | ENSP00000343764.6:p.Trp29161Cys | |
| ENST00000342175.11:c.68568G>C (TTN) | ENSP00000340554.6:p.Trp22856Cys | |
| ENST00000359218.10:c.68367G>C (TTN) | ENSP00000352154.5:p.Trp22789Cys | |
| ENST00000342175.10:c.68568G>C (TTN) | ENSP00000340554.6:p.Trp22856Cys | |
| ENST00000342992.10:c.87483G>C (TTN) | ENSP00000343764.6:p.Trp29161Cys | |
| ENST00000359218.9:c.68367G>C (TTN) | ENSP00000352154.5:p.Trp22789Cys | |
| ENST00000460472.6:c.67992G>C (TTN) | ENSP00000434586.1:p.Trp22664Cys | |
| ENST00000589042.5:c.95187G>C (TTN) MANE Select | ENSP00000467141.1:p.Trp31729Cys | |
| ENST00000591111.5:c.90264G>C (TTN) | ENSP00000465570.1:p.Trp30088Cys | |
| ENST00000615779.4:c.90264G>C (TTN) | ENSP00000483597.1:p.Trp30088Cys | |
| NM_001256850.1:c.90264G>C (TTN) | NP_001243779.1:p.Trp30088Cys | |
| NM_001267550.2:c.95187G>C (TTN) MANE Select | NP_001254479.2:p.Trp31729Cys | |
| NM_003319.4:c.67992G>C (TTN) | NP_003310.4:p.Trp22664Cys | |
| NM_133378.4:c.87483G>C (TTN) | NP_596869.4:p.Trp29161Cys | |
| NM_133432.3:c.68367G>C (TTN) | NP_597676.3:p.Trp22789Cys | |
| NM_133437.4:c.68568G>C (TTN) | NP_597681.4:p.Trp22856Cys | |
| NR_038271.1:n.446+22413C>G (TTN-AS1) | ||
| NR_038272.1:n.2043+3688C>G (TTN-AS1) | ||
| XM_011511729.1:c.94284G>C (TTN) | XP_011510031.1:p.Trp31428Cys | |
| XM_011511730.1:c.68178G>C (TTN) | XP_011510032.1:p.Trp22726Cys | |
| XM_011511731.1:c.68037G>C (TTN) | XP_011510033.1:p.Trp22679Cys | |
| XM_017004819.1:c.94080G>C (TTN) | XP_016860308.1:p.Trp31360Cys | |
| XM_017004820.1:c.89478G>C (TTN) | XP_016860309.1:p.Trp29826Cys | |
| XM_017004821.1:c.89475G>C (TTN) | XP_016860310.1:p.Trp29825Cys | |
| XM_017004822.1:c.86517G>C (TTN) | XP_016860311.1:p.Trp28839Cys | |
| XM_017004823.1:c.68133G>C (TTN) | XP_016860312.1:p.Trp22711Cys | |
| XM_024453094.1:c.89628G>C (TTN) | XP_024308862.1:p.Trp29876Cys | |
| XM_024453095.1:c.89625G>C (TTN) | XP_024308863.1:p.Trp29875Cys | |
| XM_024453096.1:c.89058G>C (TTN) | XP_024308864.1:p.Trp29686Cys | |
| XM_024453097.1:c.86400G>C (TTN) | XP_024308865.1:p.Trp28800Cys | |
| XM_024453098.1:c.86319G>C (TTN) | XP_024308866.1:p.Trp28773Cys | |
| XM_024453099.1:c.68082G>C (TTN) | XP_024308867.1:p.Trp22694Cys | |
| XM_024453100.1:c.57936G>C (TTN) | XP_024308868.1:p.Trp19312Cys |