Linked Data
ClinVar Variation Id:
332681
ClinVar RCV Id:
RCV000306472
RCV000366772
RCV000363522
RCV001434895
RCV002418194
RCV000396665
RCV000398905
dbSNP Id:
rs749108651
ExAC:
2:179395049 A / G
gnomAD v2:
2-179395049-A-G
gnomAD v4:
2-178530322-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178530322A>G , CM000664.2:g.178530322A>G | GRCh38 |
| NC_000002.11:g.179395049A>G , CM000664.1:g.179395049A>G | GRCh37 |
| NC_000002.10:g.179103295A>G | NCBI36 |
| NG_011618.3:g.305481T>C , LRG_391:g.305481T>C | |
| NG_051363.1:g.12496A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.98589T>C (TTN) | ENSP00000343764.6:p.Val32863= | |
| ENST00000342175.11:c.79674T>C (TTN) | ENSP00000340554.6:p.Val26558= | |
| ENST00000359218.10:c.79473T>C (TTN) | ENSP00000352154.5:p.Val26491= | |
| ENST00000342175.10:c.79674T>C (TTN) | ENSP00000340554.6:p.Val26558= | |
| ENST00000342992.10:c.98589T>C (TTN) | ENSP00000343764.6:p.Val32863= | |
| ENST00000359218.9:c.79473T>C (TTN) | ENSP00000352154.5:p.Val26491= | |
| ENST00000460472.6:c.79098T>C (TTN) | ENSP00000434586.1:p.Val26366= | |
| ENST00000589042.5:c.106293T>C (TTN) MANE Select | ENSP00000467141.1:p.Val35431= | |
| ENST00000591111.5:c.101370T>C (TTN) | ENSP00000465570.1:p.Val33790= | |
| ENST00000615779.4:c.101370T>C (TTN) | ENSP00000483597.1:p.Val33790= | |
| NM_001256850.1:c.101370T>C (TTN) | NP_001243779.1:p.Val33790= | |
| NM_001267550.2:c.106293T>C (TTN) MANE Select | NP_001254479.2:p.Val35431= | |
| NM_003319.4:c.79098T>C (TTN) | NP_003310.4:p.Val26366= | |
| NM_133378.4:c.98589T>C (TTN) | NP_596869.4:p.Val32863= | |
| NM_133432.3:c.79473T>C (TTN) | NP_597676.3:p.Val26491= | |
| NM_133437.4:c.79674T>C (TTN) | NP_597681.4:p.Val26558= | |
| NR_038271.1:n.446+6686A>G (TTN-AS1) | ||
| NR_038272.1:n.220-5410A>G (TTN-AS1) | ||
| XM_011511729.1:c.105390T>C (TTN) | XP_011510031.1:p.Val35130= | |
| XM_011511730.1:c.79284T>C (TTN) | XP_011510032.1:p.Val26428= | |
| XM_011511731.1:c.79143T>C (TTN) | XP_011510033.1:p.Val26381= | |
| XM_017004819.1:c.105186T>C (TTN) | XP_016860308.1:p.Val35062= | |
| XM_017004820.1:c.100584T>C (TTN) | XP_016860309.1:p.Val33528= | |
| XM_017004821.1:c.100581T>C (TTN) | XP_016860310.1:p.Val33527= | |
| XM_017004822.1:c.97623T>C (TTN) | XP_016860311.1:p.Val32541= | |
| XM_017004823.1:c.79239T>C (TTN) | XP_016860312.1:p.Val26413= | |
| XM_024453094.1:c.100734T>C (TTN) | XP_024308862.1:p.Val33578= | |
| XM_024453095.1:c.100731T>C (TTN) | XP_024308863.1:p.Val33577= | |
| XM_024453096.1:c.100164T>C (TTN) | XP_024308864.1:p.Val33388= | |
| XM_024453097.1:c.97506T>C (TTN) | XP_024308865.1:p.Val32502= | |
| XM_024453098.1:c.97425T>C (TTN) | XP_024308866.1:p.Val32475= | |
| XM_024453099.1:c.79188T>C (TTN) | XP_024308867.1:p.Val26396= | |
| XM_024453100.1:c.69042T>C (TTN) | XP_024308868.1:p.Val23014= |