Linked Data
ClinVar Variation Id:
281845
dbSNP Id:
rs753146898
ExAC:
2:179447021 A / G
gnomAD v2:
2-179447021-A-G
gnomAD v3:
2-178582294-A-G
gnomAD v4:
2-178582294-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178582294A>G , CM000664.2:g.178582294A>G | GRCh38 |
| NC_000002.11:g.179447021A>G , CM000664.1:g.179447021A>G | GRCh37 |
| NC_000002.10:g.179155267A>G | NCBI36 |
| NG_011618.3:g.253509T>C , LRG_391:g.253509T>C | |
| NG_051363.1:g.64468A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.58456+2T>C (TTN) | ENSP00000343764.6:n.58456+2T>C | |
| ENST00000342175.11:c.39541+2T>C (TTN) | ENSP00000340554.6:n.39541+2T>C | |
| ENST00000359218.10:c.39340+2T>C (TTN) | ENSP00000352154.5:n.39340+2T>C | |
| ENST00000342175.10:c.39541+2T>C (TTN) | ENSP00000340554.6:n.39541+2T>C | |
| ENST00000342992.10:c.58456+2T>C (TTN) | ENSP00000343764.6:n.58456+2T>C | |
| ENST00000359218.9:c.39340+2T>C (TTN) | ENSP00000352154.5:n.39340+2T>C | |
| ENST00000460472.6:c.38965+2T>C (TTN) | ENSP00000434586.1:n.38965+2T>C | |
| ENST00000589042.5:c.66160+2T>C (TTN) MANE Select | ENSP00000467141.1:n.66160+2T>C | |
| ENST00000591111.5:c.61237+2T>C (TTN) | ENSP00000465570.1:n.61237+2T>C | |
| ENST00000615779.4:c.61237+2T>C (TTN) | ENSP00000483597.1:n.61237+2T>C | |
| NM_001256850.1:c.61237+2T>C (TTN) | NP_001243779.1:n.61237+2T>C | |
| NM_001267550.2:c.66160+2T>C (TTN) MANE Select | NP_001254479.2:n.66160+2T>C | |
| NM_003319.4:c.38965+2T>C (TTN) | NP_003310.4:n.38965+2T>C | |
| NM_133378.4:c.58456+2T>C (TTN) | NP_596869.4:n.58456+2T>C | |
| NM_133432.3:c.39340+2T>C (TTN) | NP_597676.3:n.39340+2T>C | |
| NM_133437.4:c.39541+2T>C (TTN) | NP_597681.4:n.39541+2T>C | |
| NR_038271.1:n.596+10845A>G (TTN-AS1) | ||
| NR_038272.1:n.2044-278A>G (TTN-AS1) | ||
| XM_011511729.1:c.65257+2T>C (TTN) | XP_011510031.1:n.65257+2T>C | |
| XM_011511730.1:c.39151+2T>C (TTN) | XP_011510032.1:n.39151+2T>C | |
| XM_011511731.1:c.39010+2T>C (TTN) | XP_011510033.1:n.39010+2T>C | |
| XM_017004819.1:c.65053+2T>C (TTN) | XP_016860308.1:n.65053+2T>C | |
| XM_017004820.1:c.60451+2T>C (TTN) | XP_016860309.1:n.60451+2T>C | |
| XM_017004821.1:c.60448+2T>C (TTN) | XP_016860310.1:n.60448+2T>C | |
| XM_017004822.1:c.57490+2T>C (TTN) | XP_016860311.1:n.57490+2T>C | |
| XM_017004823.1:c.39106+2T>C (TTN) | XP_016860312.1:n.39106+2T>C | |
| XM_024453094.1:c.60601+2T>C (TTN) | XP_024308862.1:n.60601+2T>C | |
| XM_024453095.1:c.60598+2T>C (TTN) | XP_024308863.1:n.60598+2T>C | |
| XM_024453096.1:c.60031+2T>C (TTN) | XP_024308864.1:n.60031+2T>C | |
| XM_024453097.1:c.57373+2T>C (TTN) | XP_024308865.1:n.57373+2T>C | |
| XM_024453098.1:c.57292+2T>C (TTN) | XP_024308866.1:n.57292+2T>C | |
| XM_024453099.1:c.39055+2T>C (TTN) | XP_024308867.1:n.39055+2T>C | |
| XM_024453100.1:c.28909+2T>C (TTN) | XP_024308868.1:n.28909+2T>C |