Linked Data
ClinVar Variation Id:
281858
dbSNP Id:
rs541384076
ExAC:
2:179479241 C / T
gnomAD v2:
2-179479241-C-T
gnomAD v3:
2-178614514-C-T
gnomAD v4:
2-178614514-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178614514C>T , CM000664.2:g.178614514C>T | GRCh38 |
| NC_000002.11:g.179479241C>T , CM000664.1:g.179479241C>T | GRCh37 |
| NC_000002.10:g.179187486C>T | NCBI36 |
| NG_011618.3:g.221289G>A , LRG_391:g.221289G>A | |
| NG_051363.1:g.96688C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.41296G>A (TTN) | ENSP00000343764.6:p.Val13766Met | |
| ENST00000342175.11:c.22381G>A (TTN) | ENSP00000340554.6:p.Val7461Met | |
| ENST00000359218.10:c.22180G>A (TTN) | ENSP00000352154.5:p.Val7394Met | |
| ENST00000342175.10:c.22381G>A (TTN) | ENSP00000340554.6:p.Val7461Met | |
| ENST00000342992.10:c.41296G>A (TTN) | ENSP00000343764.6:p.Val13766Met | |
| ENST00000359218.9:c.22180G>A (TTN) | ENSP00000352154.5:p.Val7394Met | |
| ENST00000460472.6:c.21805G>A (TTN) | ENSP00000434586.1:p.Val7269Met | |
| ENST00000589042.5:c.49000G>A (TTN) MANE Select | ENSP00000467141.1:p.Val16334Met | |
| ENST00000591111.5:c.44077G>A (TTN) | ENSP00000465570.1:p.Val14693Met | |
| ENST00000615779.4:c.44077G>A (TTN) | ENSP00000483597.1:p.Val14693Met | |
| NM_001256850.1:c.44077G>A (TTN) | NP_001243779.1:p.Val14693Met | |
| NM_001267550.2:c.49000G>A (TTN) MANE Select | NP_001254479.2:p.Val16334Met | |
| NM_003319.4:c.21805G>A (TTN) | NP_003310.4:p.Val7269Met | |
| NM_133378.4:c.41296G>A (TTN) | NP_596869.4:p.Val13766Met | |
| NM_133432.3:c.22180G>A (TTN) | NP_597676.3:p.Val7394Met | |
| NM_133437.4:c.22381G>A (TTN) | NP_597681.4:p.Val7461Met | |
| NR_038271.1:n.1262C>T (TTN-AS1) | ||
| XM_011511729.1:c.48097G>A (TTN) | XP_011510031.1:p.Val16033Met | |
| XM_011511730.1:c.21991G>A (TTN) | XP_011510032.1:p.Val7331Met | |
| XM_011511731.1:c.21850G>A (TTN) | XP_011510033.1:p.Val7284Met | |
| XM_017004819.1:c.47893G>A (TTN) | XP_016860308.1:p.Val15965Met | |
| XM_017004820.1:c.43291G>A (TTN) | XP_016860309.1:p.Val14431Met | |
| XM_017004821.1:c.43288G>A (TTN) | XP_016860310.1:p.Val14430Met | |
| XM_017004822.1:c.40330G>A (TTN) | XP_016860311.1:p.Val13444Met | |
| XM_017004823.1:c.21946G>A (TTN) | XP_016860312.1:p.Val7316Met | |
| XM_024453094.1:c.43441G>A (TTN) | XP_024308862.1:p.Val14481Met | |
| XM_024453095.1:c.43438G>A (TTN) | XP_024308863.1:p.Val14480Met | |
| XM_024453096.1:c.42871G>A (TTN) | XP_024308864.1:p.Val14291Met | |
| XM_024453097.1:c.40213G>A (TTN) | XP_024308865.1:p.Val13405Met | |
| XM_024453098.1:c.40132G>A (TTN) | XP_024308866.1:p.Val13378Met | |
| XM_024453099.1:c.21895G>A (TTN) | XP_024308867.1:p.Val7299Met | |
| XM_024453100.1:c.11749G>A (TTN) | XP_024308868.1:p.Val3917Met |