Linked Data
ClinVar Variation Id:
202710
dbSNP Id:
rs369678018
ExAC:
2:179470242 A / G
gnomAD v2:
2-179470242-A-G
gnomAD v3:
2-178605515-A-G
gnomAD v4:
2-178605515-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178605515A>G , CM000664.2:g.178605515A>G | GRCh38 |
| NC_000002.11:g.179470242A>G , CM000664.1:g.179470242A>G | GRCh37 |
| NC_000002.10:g.179178487A>G | NCBI36 |
| NG_011618.3:g.230288T>C , LRG_391:g.230288T>C | |
| NG_051363.1:g.87689A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.46076T>C (TTN) | ENSP00000343764.6:p.Leu15359Pro | |
| ENST00000342175.11:c.27161T>C (TTN) | ENSP00000340554.6:p.Leu9054Pro | |
| ENST00000359218.10:c.26960T>C (TTN) | ENSP00000352154.5:p.Leu8987Pro | |
| ENST00000342175.10:c.27161T>C (TTN) | ENSP00000340554.6:p.Leu9054Pro | |
| ENST00000342992.10:c.46076T>C (TTN) | ENSP00000343764.6:p.Leu15359Pro | |
| ENST00000359218.9:c.26960T>C (TTN) | ENSP00000352154.5:p.Leu8987Pro | |
| ENST00000460472.6:c.26585T>C (TTN) | ENSP00000434586.1:p.Leu8862Pro | |
| ENST00000589042.5:c.53780T>C (TTN) MANE Select | ENSP00000467141.1:p.Leu17927Pro | |
| ENST00000591111.5:c.48857T>C (TTN) | ENSP00000465570.1:p.Leu16286Pro | |
| ENST00000615779.4:c.48857T>C (TTN) | ENSP00000483597.1:p.Leu16286Pro | |
| NM_001256850.1:c.48857T>C (TTN) | NP_001243779.1:p.Leu16286Pro | |
| NM_001267550.2:c.53780T>C (TTN) MANE Select | NP_001254479.2:p.Leu17927Pro | |
| NM_003319.4:c.26585T>C (TTN) | NP_003310.4:p.Leu8862Pro | |
| NM_133378.4:c.46076T>C (TTN) | NP_596869.4:p.Leu15359Pro | |
| NM_133432.3:c.26960T>C (TTN) | NP_597676.3:p.Leu8987Pro | |
| NM_133437.4:c.27161T>C (TTN) | NP_597681.4:p.Leu9054Pro | |
| NR_038271.1:n.683-2652A>G (TTN-AS1) | ||
| XM_011511729.1:c.52877T>C (TTN) | XP_011510031.1:p.Leu17626Pro | |
| XM_011511730.1:c.26771T>C (TTN) | XP_011510032.1:p.Leu8924Pro | |
| XM_011511731.1:c.26630T>C (TTN) | XP_011510033.1:p.Leu8877Pro | |
| XM_017004819.1:c.52673T>C (TTN) | XP_016860308.1:p.Leu17558Pro | |
| XM_017004820.1:c.48071T>C (TTN) | XP_016860309.1:p.Leu16024Pro | |
| XM_017004821.1:c.48068T>C (TTN) | XP_016860310.1:p.Leu16023Pro | |
| XM_017004822.1:c.45110T>C (TTN) | XP_016860311.1:p.Leu15037Pro | |
| XM_017004823.1:c.26726T>C (TTN) | XP_016860312.1:p.Leu8909Pro | |
| XM_024453094.1:c.48221T>C (TTN) | XP_024308862.1:p.Leu16074Pro | |
| XM_024453095.1:c.48218T>C (TTN) | XP_024308863.1:p.Leu16073Pro | |
| XM_024453096.1:c.47651T>C (TTN) | XP_024308864.1:p.Leu15884Pro | |
| XM_024453097.1:c.44993T>C (TTN) | XP_024308865.1:p.Leu14998Pro | |
| XM_024453098.1:c.44912T>C (TTN) | XP_024308866.1:p.Leu14971Pro | |
| XM_024453099.1:c.26675T>C (TTN) | XP_024308867.1:p.Leu8892Pro | |
| XM_024453100.1:c.16529T>C (TTN) | XP_024308868.1:p.Leu5510Pro |