Linked Data
ClinVar Variation Id:
501487
dbSNP Id:
rs372611171
ExAC:
2:179413098 C / T
gnomAD v2:
2-179413098-C-T
gnomAD v3:
2-178548371-C-T
gnomAD v4:
2-178548371-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178548371C>T , CM000664.2:g.178548371C>T | GRCh38 |
| NC_000002.11:g.179413098C>T , CM000664.1:g.179413098C>T | GRCh37 |
| NC_000002.10:g.179121344C>T | NCBI36 |
| NG_011618.3:g.287432G>A , LRG_391:g.287432G>A | |
| NG_051363.1:g.30545C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.85551G>A (TTN) | ENSP00000343764.6:p.Pro28517= | |
| ENST00000342175.11:c.66636G>A (TTN) | ENSP00000340554.6:p.Pro22212= | |
| ENST00000359218.10:c.66435G>A (TTN) | ENSP00000352154.5:p.Pro22145= | |
| ENST00000342175.10:c.66636G>A (TTN) | ENSP00000340554.6:p.Pro22212= | |
| ENST00000342992.10:c.85551G>A (TTN) | ENSP00000343764.6:p.Pro28517= | |
| ENST00000359218.9:c.66435G>A (TTN) | ENSP00000352154.5:p.Pro22145= | |
| ENST00000460472.6:c.66060G>A (TTN) | ENSP00000434586.1:p.Pro22020= | |
| ENST00000589042.5:c.93255G>A (TTN) MANE Select | ENSP00000467141.1:p.Pro31085= | |
| ENST00000591111.5:c.88332G>A (TTN) | ENSP00000465570.1:p.Pro29444= | |
| ENST00000615779.4:c.88332G>A (TTN) | ENSP00000483597.1:p.Pro29444= | |
| NM_001256850.1:c.88332G>A (TTN) | NP_001243779.1:p.Pro29444= | |
| NM_001267550.2:c.93255G>A (TTN) MANE Select | NP_001254479.2:p.Pro31085= | |
| NM_003319.4:c.66060G>A (TTN) | NP_003310.4:p.Pro22020= | |
| NM_133378.4:c.85551G>A (TTN) | NP_596869.4:p.Pro28517= | |
| NM_133432.3:c.66435G>A (TTN) | NP_597676.3:p.Pro22145= | |
| NM_133437.4:c.66636G>A (TTN) | NP_597681.4:p.Pro22212= | |
| NR_038271.1:n.447-22929C>T (TTN-AS1) | ||
| NR_038272.1:n.2043+6010C>T (TTN-AS1) | ||
| XM_011511729.1:c.92352G>A (TTN) | XP_011510031.1:p.Pro30784= | |
| XM_011511730.1:c.66246G>A (TTN) | XP_011510032.1:p.Pro22082= | |
| XM_011511731.1:c.66105G>A (TTN) | XP_011510033.1:p.Pro22035= | |
| XM_017004819.1:c.92148G>A (TTN) | XP_016860308.1:p.Pro30716= | |
| XM_017004820.1:c.87546G>A (TTN) | XP_016860309.1:p.Pro29182= | |
| XM_017004821.1:c.87543G>A (TTN) | XP_016860310.1:p.Pro29181= | |
| XM_017004822.1:c.84585G>A (TTN) | XP_016860311.1:p.Pro28195= | |
| XM_017004823.1:c.66201G>A (TTN) | XP_016860312.1:p.Pro22067= | |
| XM_024453094.1:c.87696G>A (TTN) | XP_024308862.1:p.Pro29232= | |
| XM_024453095.1:c.87693G>A (TTN) | XP_024308863.1:p.Pro29231= | |
| XM_024453096.1:c.87126G>A (TTN) | XP_024308864.1:p.Pro29042= | |
| XM_024453097.1:c.84468G>A (TTN) | XP_024308865.1:p.Pro28156= | |
| XM_024453098.1:c.84387G>A (TTN) | XP_024308866.1:p.Pro28129= | |
| XM_024453099.1:c.66150G>A (TTN) | XP_024308867.1:p.Pro22050= | |
| XM_024453100.1:c.56004G>A (TTN) | XP_024308868.1:p.Pro18668= |