Linked Data
ClinVar Variation Id:
229572
dbSNP Id:
rs199663911
ExAC:
2:179394750 A / G
gnomAD v2:
2-179394750-A-G
gnomAD v3:
2-178530023-A-G
gnomAD v4:
2-178530023-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178530023A>G , CM000664.2:g.178530023A>G | GRCh38 |
| NC_000002.11:g.179394750A>G , CM000664.1:g.179394750A>G | GRCh37 |
| NC_000002.10:g.179102996A>G | NCBI36 |
| NG_011618.3:g.305780T>C , LRG_391:g.305780T>C | |
| NG_051363.1:g.12197A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.98764T>C (TTN) | ENSP00000343764.6:p.Tyr32922His | |
| ENST00000342175.11:c.79849T>C (TTN) | ENSP00000340554.6:p.Tyr26617His | |
| ENST00000359218.10:c.79648T>C (TTN) | ENSP00000352154.5:p.Tyr26550His | |
| ENST00000342175.10:c.79849T>C (TTN) | ENSP00000340554.6:p.Tyr26617His | |
| ENST00000342992.10:c.98764T>C (TTN) | ENSP00000343764.6:p.Tyr32922His | |
| ENST00000359218.9:c.79648T>C (TTN) | ENSP00000352154.5:p.Tyr26550His | |
| ENST00000460472.6:c.79273T>C (TTN) | ENSP00000434586.1:p.Tyr26425His | |
| ENST00000589042.5:c.106468T>C (TTN) MANE Select | ENSP00000467141.1:p.Tyr35490His | |
| ENST00000591111.5:c.101545T>C (TTN) | ENSP00000465570.1:p.Tyr33849His | |
| ENST00000615779.4:c.101545T>C (TTN) | ENSP00000483597.1:p.Tyr33849His | |
| NM_001256850.1:c.101545T>C (TTN) | NP_001243779.1:p.Tyr33849His | |
| NM_001267550.2:c.106468T>C (TTN) MANE Select | NP_001254479.2:p.Tyr35490His | |
| NM_003319.4:c.79273T>C (TTN) | NP_003310.4:p.Tyr26425His | |
| NM_133378.4:c.98764T>C (TTN) | NP_596869.4:p.Tyr32922His | |
| NM_133432.3:c.79648T>C (TTN) | NP_597676.3:p.Tyr26550His | |
| NM_133437.4:c.79849T>C (TTN) | NP_597681.4:p.Tyr26617His | |
| NR_038271.1:n.446+6387A>G (TTN-AS1) | ||
| NR_038272.1:n.220-5709A>G (TTN-AS1) | ||
| XM_011511729.1:c.105565T>C (TTN) | XP_011510031.1:p.Tyr35189His | |
| XM_011511730.1:c.79459T>C (TTN) | XP_011510032.1:p.Tyr26487His | |
| XM_011511731.1:c.79318T>C (TTN) | XP_011510033.1:p.Tyr26440His | |
| XM_017004819.1:c.105361T>C (TTN) | XP_016860308.1:p.Tyr35121His | |
| XM_017004820.1:c.100759T>C (TTN) | XP_016860309.1:p.Tyr33587His | |
| XM_017004821.1:c.100756T>C (TTN) | XP_016860310.1:p.Tyr33586His | |
| XM_017004822.1:c.97798T>C (TTN) | XP_016860311.1:p.Tyr32600His | |
| XM_017004823.1:c.79414T>C (TTN) | XP_016860312.1:p.Tyr26472His | |
| XM_024453094.1:c.100909T>C (TTN) | XP_024308862.1:p.Tyr33637His | |
| XM_024453095.1:c.100906T>C (TTN) | XP_024308863.1:p.Tyr33636His | |
| XM_024453096.1:c.100339T>C (TTN) | XP_024308864.1:p.Tyr33447His | |
| XM_024453097.1:c.97681T>C (TTN) | XP_024308865.1:p.Tyr32561His | |
| XM_024453098.1:c.97600T>C (TTN) | XP_024308866.1:p.Tyr32534His | |
| XM_024453099.1:c.79363T>C (TTN) | XP_024308867.1:p.Tyr26455His | |
| XM_024453100.1:c.69217T>C (TTN) | XP_024308868.1:p.Tyr23073His |