Linked Data
ClinVar Variation Id:
202659
dbSNP Id:
rs369663023
ExAC:
2:179481886 A / G
gnomAD v2:
2-179481886-A-G
gnomAD v3:
2-178617159-A-G
gnomAD v4:
2-178617159-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178617159A>G , CM000664.2:g.178617159A>G | GRCh38 |
| NC_000002.11:g.179481886A>G , CM000664.1:g.179481886A>G | GRCh37 |
| NC_000002.10:g.179190131A>G | NCBI36 |
| NG_011618.3:g.218644T>C , LRG_391:g.218644T>C | |
| NG_051363.1:g.99333A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.40132T>C (TTN) | ENSP00000343764.6:p.Ser13378Pro | |
| ENST00000342175.11:c.21217T>C (TTN) | ENSP00000340554.6:p.Ser7073Pro | |
| ENST00000359218.10:c.21016T>C (TTN) | ENSP00000352154.5:p.Ser7006Pro | |
| ENST00000342175.10:c.21217T>C (TTN) | ENSP00000340554.6:p.Ser7073Pro | |
| ENST00000342992.10:c.40132T>C (TTN) | ENSP00000343764.6:p.Ser13378Pro | |
| ENST00000359218.9:c.21016T>C (TTN) | ENSP00000352154.5:p.Ser7006Pro | |
| ENST00000460472.6:c.20641T>C (TTN) | ENSP00000434586.1:p.Ser6881Pro | |
| ENST00000589042.5:c.47836T>C (TTN) MANE Select | ENSP00000467141.1:p.Ser15946Pro | |
| ENST00000591111.5:c.42913T>C (TTN) | ENSP00000465570.1:p.Ser14305Pro | |
| ENST00000615779.4:c.42913T>C (TTN) | ENSP00000483597.1:p.Ser14305Pro | |
| NM_001256850.1:c.42913T>C (TTN) | NP_001243779.1:p.Ser14305Pro | |
| NM_001267550.2:c.47836T>C (TTN) MANE Select | NP_001254479.2:p.Ser15946Pro | |
| NM_003319.4:c.20641T>C (TTN) | NP_003310.4:p.Ser6881Pro | |
| NM_133378.4:c.40132T>C (TTN) | NP_596869.4:p.Ser13378Pro | |
| NM_133432.3:c.21016T>C (TTN) | NP_597676.3:p.Ser7006Pro | |
| NM_133437.4:c.21217T>C (TTN) | NP_597681.4:p.Ser7073Pro | |
| NR_038271.1:n.1604+1785A>G (TTN-AS1) | ||
| XM_011511729.1:c.46933T>C (TTN) | XP_011510031.1:p.Ser15645Pro | |
| XM_011511730.1:c.20827T>C (TTN) | XP_011510032.1:p.Ser6943Pro | |
| XM_011511731.1:c.20686T>C (TTN) | XP_011510033.1:p.Ser6896Pro | |
| XM_017004819.1:c.46729T>C (TTN) | XP_016860308.1:p.Ser15577Pro | |
| XM_017004820.1:c.42127T>C (TTN) | XP_016860309.1:p.Ser14043Pro | |
| XM_017004821.1:c.42124T>C (TTN) | XP_016860310.1:p.Ser14042Pro | |
| XM_017004822.1:c.39166T>C (TTN) | XP_016860311.1:p.Ser13056Pro | |
| XM_017004823.1:c.20782T>C (TTN) | XP_016860312.1:p.Ser6928Pro | |
| XM_024453094.1:c.42277T>C (TTN) | XP_024308862.1:p.Ser14093Pro | |
| XM_024453095.1:c.42274T>C (TTN) | XP_024308863.1:p.Ser14092Pro | |
| XM_024453096.1:c.41707T>C (TTN) | XP_024308864.1:p.Ser13903Pro | |
| XM_024453097.1:c.39049T>C (TTN) | XP_024308865.1:p.Ser13017Pro | |
| XM_024453098.1:c.38968T>C (TTN) | XP_024308866.1:p.Ser12990Pro | |
| XM_024453099.1:c.20731T>C (TTN) | XP_024308867.1:p.Ser6911Pro | |
| XM_024453100.1:c.10585T>C (TTN) | XP_024308868.1:p.Ser3529Pro |