Linked Data
ClinVar Variation Id:
196004
dbSNP Id:
rs764330098
ExAC:
2:179446345 A / C
gnomAD v2:
2-179446345-A-C
gnomAD v3:
2-178581618-A-C
gnomAD v4:
2-178581618-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178581618A>C , CM000664.2:g.178581618A>C | GRCh38 |
| NC_000002.11:g.179446345A>C , CM000664.1:g.179446345A>C | GRCh37 |
| NC_000002.10:g.179154591A>C | NCBI36 |
| NG_011618.3:g.254185T>G , LRG_391:g.254185T>G | |
| NG_051363.1:g.63792A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.58946T>G (TTN) | ENSP00000343764.6:p.Phe19649Cys | |
| ENST00000342175.11:c.40031T>G (TTN) | ENSP00000340554.6:p.Phe13344Cys | |
| ENST00000359218.10:c.39830T>G (TTN) | ENSP00000352154.5:p.Phe13277Cys | |
| ENST00000342175.10:c.40031T>G (TTN) | ENSP00000340554.6:p.Phe13344Cys | |
| ENST00000342992.10:c.58946T>G (TTN) | ENSP00000343764.6:p.Phe19649Cys | |
| ENST00000359218.9:c.39830T>G (TTN) | ENSP00000352154.5:p.Phe13277Cys | |
| ENST00000460472.6:c.39455T>G (TTN) | ENSP00000434586.1:p.Phe13152Cys | |
| ENST00000589042.5:c.66650T>G (TTN) MANE Select | ENSP00000467141.1:p.Phe22217Cys | |
| ENST00000591111.5:c.61727T>G (TTN) | ENSP00000465570.1:p.Phe20576Cys | |
| ENST00000615779.4:c.61727T>G (TTN) | ENSP00000483597.1:p.Phe20576Cys | |
| NM_001256850.1:c.61727T>G (TTN) | NP_001243779.1:p.Phe20576Cys | |
| NM_001267550.2:c.66650T>G (TTN) MANE Select | NP_001254479.2:p.Phe22217Cys | |
| NM_003319.4:c.39455T>G (TTN) | NP_003310.4:p.Phe13152Cys | |
| NM_133378.4:c.58946T>G (TTN) | NP_596869.4:p.Phe19649Cys | |
| NM_133432.3:c.39830T>G (TTN) | NP_597676.3:p.Phe13277Cys | |
| NM_133437.4:c.40031T>G (TTN) | NP_597681.4:p.Phe13344Cys | |
| NR_038271.1:n.596+10169A>C (TTN-AS1) | ||
| NR_038272.1:n.2044-954A>C (TTN-AS1) | ||
| XM_011511729.1:c.65747T>G (TTN) | XP_011510031.1:p.Phe21916Cys | |
| XM_011511730.1:c.39641T>G (TTN) | XP_011510032.1:p.Phe13214Cys | |
| XM_011511731.1:c.39500T>G (TTN) | XP_011510033.1:p.Phe13167Cys | |
| XM_017004819.1:c.65543T>G (TTN) | XP_016860308.1:p.Phe21848Cys | |
| XM_017004820.1:c.60941T>G (TTN) | XP_016860309.1:p.Phe20314Cys | |
| XM_017004821.1:c.60938T>G (TTN) | XP_016860310.1:p.Phe20313Cys | |
| XM_017004822.1:c.57980T>G (TTN) | XP_016860311.1:p.Phe19327Cys | |
| XM_017004823.1:c.39596T>G (TTN) | XP_016860312.1:p.Phe13199Cys | |
| XM_024453094.1:c.61091T>G (TTN) | XP_024308862.1:p.Phe20364Cys | |
| XM_024453095.1:c.61088T>G (TTN) | XP_024308863.1:p.Phe20363Cys | |
| XM_024453096.1:c.60521T>G (TTN) | XP_024308864.1:p.Phe20174Cys | |
| XM_024453097.1:c.57863T>G (TTN) | XP_024308865.1:p.Phe19288Cys | |
| XM_024453098.1:c.57782T>G (TTN) | XP_024308866.1:p.Phe19261Cys | |
| XM_024453099.1:c.39545T>G (TTN) | XP_024308867.1:p.Phe13182Cys | |
| XM_024453100.1:c.29399T>G (TTN) | XP_024308868.1:p.Phe9800Cys |