Linked Data
ClinVar Variation Id:
263442
dbSNP Id:
rs368969893
ExAC:
2:179453905 C / T
gnomAD v2:
2-179453905-C-T
gnomAD v3:
2-178589178-C-T
gnomAD v4:
2-178589178-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178589178C>T , CM000664.2:g.178589178C>T | GRCh38 |
| NC_000002.11:g.179453905C>T , CM000664.1:g.179453905C>T | GRCh37 |
| NC_000002.10:g.179162151C>T | NCBI36 |
| NG_011618.3:g.246625G>A , LRG_391:g.246625G>A | |
| NG_051363.1:g.71352C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.54843G>A (TTN) | ENSP00000343764.6:p.Thr18281= | |
| ENST00000342175.11:c.35928G>A (TTN) | ENSP00000340554.6:p.Thr11976= | |
| ENST00000359218.10:c.35727G>A (TTN) | ENSP00000352154.5:p.Thr11909= | |
| ENST00000342175.10:c.35928G>A (TTN) | ENSP00000340554.6:p.Thr11976= | |
| ENST00000342992.10:c.54843G>A (TTN) | ENSP00000343764.6:p.Thr18281= | |
| ENST00000359218.9:c.35727G>A (TTN) | ENSP00000352154.5:p.Thr11909= | |
| ENST00000460472.6:c.35352G>A (TTN) | ENSP00000434586.1:p.Thr11784= | |
| ENST00000589042.5:c.62547G>A (TTN) MANE Select | ENSP00000467141.1:p.Thr20849= | |
| ENST00000591111.5:c.57624G>A (TTN) | ENSP00000465570.1:p.Thr19208= | |
| ENST00000615779.4:c.57624G>A (TTN) | ENSP00000483597.1:p.Thr19208= | |
| NM_001256850.1:c.57624G>A (TTN) | NP_001243779.1:p.Thr19208= | |
| NM_001267550.2:c.62547G>A (TTN) MANE Select | NP_001254479.2:p.Thr20849= | |
| NM_003319.4:c.35352G>A (TTN) | NP_003310.4:p.Thr11784= | |
| NM_133378.4:c.54843G>A (TTN) | NP_596869.4:p.Thr18281= | |
| NM_133432.3:c.35727G>A (TTN) | NP_597676.3:p.Thr11909= | |
| NM_133437.4:c.35928G>A (TTN) | NP_597681.4:p.Thr11976= | |
| NR_038271.1:n.597-8418C>T (TTN-AS1) | ||
| NR_038272.1:n.3189-1961C>T (TTN-AS1) | ||
| XM_011511729.1:c.61644G>A (TTN) | XP_011510031.1:p.Thr20548= | |
| XM_011511730.1:c.35538G>A (TTN) | XP_011510032.1:p.Thr11846= | |
| XM_011511731.1:c.35397G>A (TTN) | XP_011510033.1:p.Thr11799= | |
| XM_017004819.1:c.61440G>A (TTN) | XP_016860308.1:p.Thr20480= | |
| XM_017004820.1:c.56838G>A (TTN) | XP_016860309.1:p.Thr18946= | |
| XM_017004821.1:c.56835G>A (TTN) | XP_016860310.1:p.Thr18945= | |
| XM_017004822.1:c.53877G>A (TTN) | XP_016860311.1:p.Thr17959= | |
| XM_017004823.1:c.35493G>A (TTN) | XP_016860312.1:p.Thr11831= | |
| XM_024453094.1:c.56988G>A (TTN) | XP_024308862.1:p.Thr18996= | |
| XM_024453095.1:c.56985G>A (TTN) | XP_024308863.1:p.Thr18995= | |
| XM_024453096.1:c.56418G>A (TTN) | XP_024308864.1:p.Thr18806= | |
| XM_024453097.1:c.53760G>A (TTN) | XP_024308865.1:p.Thr17920= | |
| XM_024453098.1:c.53679G>A (TTN) | XP_024308866.1:p.Thr17893= | |
| XM_024453099.1:c.35442G>A (TTN) | XP_024308867.1:p.Thr11814= | |
| XM_024453100.1:c.25296G>A (TTN) | XP_024308868.1:p.Thr8432= |