Linked Data
ClinVar Variation Id:
466745
dbSNP Id:
rs780629996
ExAC:
2:179395422 A / G
gnomAD v2:
2-179395422-A-G
gnomAD v3:
2-178530695-A-G
gnomAD v4:
2-178530695-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178530695A>G , CM000664.2:g.178530695A>G | GRCh38 |
| NC_000002.11:g.179395422A>G , CM000664.1:g.179395422A>G | GRCh37 |
| NC_000002.10:g.179103668A>G | NCBI36 |
| NG_011618.3:g.305108T>C , LRG_391:g.305108T>C | |
| NG_051363.1:g.12869A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.98216T>C (TTN) | ENSP00000343764.6:p.Val32739Ala | |
| ENST00000342175.11:c.79301T>C (TTN) | ENSP00000340554.6:p.Val26434Ala | |
| ENST00000359218.10:c.79100T>C (TTN) | ENSP00000352154.5:p.Val26367Ala | |
| ENST00000342175.10:c.79301T>C (TTN) | ENSP00000340554.6:p.Val26434Ala | |
| ENST00000342992.10:c.98216T>C (TTN) | ENSP00000343764.6:p.Val32739Ala | |
| ENST00000359218.9:c.79100T>C (TTN) | ENSP00000352154.5:p.Val26367Ala | |
| ENST00000460472.6:c.78725T>C (TTN) | ENSP00000434586.1:p.Val26242Ala | |
| ENST00000589042.5:c.105920T>C (TTN) MANE Select | ENSP00000467141.1:p.Val35307Ala | |
| ENST00000591111.5:c.100997T>C (TTN) | ENSP00000465570.1:p.Val33666Ala | |
| ENST00000615779.4:c.100997T>C (TTN) | ENSP00000483597.1:p.Val33666Ala | |
| NM_001256850.1:c.100997T>C (TTN) | NP_001243779.1:p.Val33666Ala | |
| NM_001267550.2:c.105920T>C (TTN) MANE Select | NP_001254479.2:p.Val35307Ala | |
| NM_003319.4:c.78725T>C (TTN) | NP_003310.4:p.Val26242Ala | |
| NM_133378.4:c.98216T>C (TTN) | NP_596869.4:p.Val32739Ala | |
| NM_133432.3:c.79100T>C (TTN) | NP_597676.3:p.Val26367Ala | |
| NM_133437.4:c.79301T>C (TTN) | NP_597681.4:p.Val26434Ala | |
| NR_038271.1:n.446+7059A>G (TTN-AS1) | ||
| NR_038272.1:n.220-5037A>G (TTN-AS1) | ||
| XM_011511729.1:c.105017T>C (TTN) | XP_011510031.1:p.Val35006Ala | |
| XM_011511730.1:c.78911T>C (TTN) | XP_011510032.1:p.Val26304Ala | |
| XM_011511731.1:c.78770T>C (TTN) | XP_011510033.1:p.Val26257Ala | |
| XM_017004819.1:c.104813T>C (TTN) | XP_016860308.1:p.Val34938Ala | |
| XM_017004820.1:c.100211T>C (TTN) | XP_016860309.1:p.Val33404Ala | |
| XM_017004821.1:c.100208T>C (TTN) | XP_016860310.1:p.Val33403Ala | |
| XM_017004822.1:c.97250T>C (TTN) | XP_016860311.1:p.Val32417Ala | |
| XM_017004823.1:c.78866T>C (TTN) | XP_016860312.1:p.Val26289Ala | |
| XM_024453094.1:c.100361T>C (TTN) | XP_024308862.1:p.Val33454Ala | |
| XM_024453095.1:c.100358T>C (TTN) | XP_024308863.1:p.Val33453Ala | |
| XM_024453096.1:c.99791T>C (TTN) | XP_024308864.1:p.Val33264Ala | |
| XM_024453097.1:c.97133T>C (TTN) | XP_024308865.1:p.Val32378Ala | |
| XM_024453098.1:c.97052T>C (TTN) | XP_024308866.1:p.Val32351Ala | |
| XM_024453099.1:c.78815T>C (TTN) | XP_024308867.1:p.Val26272Ala | |
| XM_024453100.1:c.68669T>C (TTN) | XP_024308868.1:p.Val22890Ala |