Linked Data
ClinVar Variation Id:
507763
dbSNP Id:
rs758482142
gnomAD v2:
2-179432111-A-G
gnomAD v3:
2-178567384-A-G
gnomAD v4:
2-178567384-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178567384A>G , CM000664.2:g.178567384A>G | GRCh38 |
| NC_000002.11:g.179432111A>G , CM000664.1:g.179432111A>G | GRCh37 |
| NC_000002.10:g.179140357A>G | NCBI36 |
| NG_011618.3:g.268419T>C , LRG_391:g.268419T>C | |
| NG_051363.1:g.49558A>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000342992.11:c.71044T>C (TTN) | ENSP00000343764.6:p.Leu23682= | |
| ENST00000342175.11:c.52129T>C (TTN) | ENSP00000340554.6:p.Leu17377= | |
| ENST00000359218.10:c.51928T>C (TTN) | ENSP00000352154.5:p.Leu17310= | |
| ENST00000342175.10:c.52129T>C (TTN) | ENSP00000340554.6:p.Leu17377= | |
| ENST00000342992.10:c.71044T>C (TTN) | ENSP00000343764.6:p.Leu23682= | |
| ENST00000359218.9:c.51928T>C (TTN) | ENSP00000352154.5:p.Leu17310= | |
| ENST00000460472.6:c.51553T>C (TTN) | ENSP00000434586.1:p.Leu17185= | |
| ENST00000589042.5:c.78748T>C (TTN) MANE Select | ENSP00000467141.1:p.Leu26250= | |
| ENST00000591111.5:c.73825T>C (TTN) | ENSP00000465570.1:p.Leu24609= | |
| ENST00000615779.4:c.73825T>C (TTN) | ENSP00000483597.1:p.Leu24609= | |
| NM_001256850.1:c.73825T>C (TTN) | NP_001243779.1:p.Leu24609= | |
| NM_001267550.2:c.78748T>C (TTN) MANE Select | NP_001254479.2:p.Leu26250= | |
| NM_003319.4:c.51553T>C (TTN) | NP_003310.4:p.Leu17185= | |
| NM_133378.4:c.71044T>C (TTN) | NP_596869.4:p.Leu23682= | |
| NM_133432.3:c.51928T>C (TTN) | NP_597676.3:p.Leu17310= | |
| NM_133437.4:c.52129T>C (TTN) | NP_597681.4:p.Leu17377= | |
| NR_038271.1:n.447-3916A>G (TTN-AS1) | ||
| NR_038272.1:n.2044-15188A>G (TTN-AS1) | ||
| XM_011511729.1:c.77845T>C (TTN) | XP_011510031.1:p.Leu25949= | |
| XM_011511730.1:c.51739T>C (TTN) | XP_011510032.1:p.Leu17247= | |
| XM_011511731.1:c.51598T>C (TTN) | XP_011510033.1:p.Leu17200= | |
| XM_017004819.1:c.77641T>C (TTN) | XP_016860308.1:p.Leu25881= | |
| XM_017004820.1:c.73039T>C (TTN) | XP_016860309.1:p.Leu24347= | |
| XM_017004821.1:c.73036T>C (TTN) | XP_016860310.1:p.Leu24346= | |
| XM_017004822.1:c.70078T>C (TTN) | XP_016860311.1:p.Leu23360= | |
| XM_017004823.1:c.51694T>C (TTN) | XP_016860312.1:p.Leu17232= | |
| XM_024453094.1:c.73189T>C (TTN) | XP_024308862.1:p.Leu24397= | |
| XM_024453095.1:c.73186T>C (TTN) | XP_024308863.1:p.Leu24396= | |
| XM_024453096.1:c.72619T>C (TTN) | XP_024308864.1:p.Leu24207= | |
| XM_024453097.1:c.69961T>C (TTN) | XP_024308865.1:p.Leu23321= | |
| XM_024453098.1:c.69880T>C (TTN) | XP_024308866.1:p.Leu23294= | |
| XM_024453099.1:c.51643T>C (TTN) | XP_024308867.1:p.Leu17215= | |
| XM_024453100.1:c.41497T>C (TTN) | XP_024308868.1:p.Leu13833= |