Linked Data
ClinVar Variation Id:
385545
dbSNP Id:
rs1057522256
gnomAD v2:
2-179455719-G-A
gnomAD v4:
2-178590992-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178590992G>A , CM000664.2:g.178590992G>A | GRCh38 |
| NC_000002.11:g.179455719G>A , CM000664.1:g.179455719G>A | GRCh37 |
| NC_000002.10:g.179163965G>A | NCBI36 |
| NG_011618.3:g.244811C>T , LRG_391:g.244811C>T | |
| NG_051363.1:g.73166G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.53029C>T (TTN) | ENSP00000343764.6:p.Arg17677Ter | |
| ENST00000342175.11:c.34114C>T (TTN) | ENSP00000340554.6:p.Arg11372Ter | |
| ENST00000359218.10:c.33913C>T (TTN) | ENSP00000352154.5:p.Arg11305Ter | |
| ENST00000342175.10:c.34114C>T (TTN) | ENSP00000340554.6:p.Arg11372Ter | |
| ENST00000342992.10:c.53029C>T (TTN) | ENSP00000343764.6:p.Arg17677Ter | |
| ENST00000359218.9:c.33913C>T (TTN) | ENSP00000352154.5:p.Arg11305Ter | |
| ENST00000460472.6:c.33538C>T (TTN) | ENSP00000434586.1:p.Arg11180Ter | |
| ENST00000589042.5:c.60733C>T (TTN) MANE Select | ENSP00000467141.1:p.Arg20245Ter | |
| ENST00000591111.5:c.55810C>T (TTN) | ENSP00000465570.1:p.Arg18604Ter | |
| ENST00000615779.4:c.55810C>T (TTN) | ENSP00000483597.1:p.Arg18604Ter | |
| NM_001256850.1:c.55810C>T (TTN) | NP_001243779.1:p.Arg18604Ter | |
| NM_001267550.2:c.60733C>T (TTN) MANE Select | NP_001254479.2:p.Arg20245Ter | |
| NM_003319.4:c.33538C>T (TTN) | NP_003310.4:p.Arg11180Ter | |
| NM_133378.4:c.53029C>T (TTN) | NP_596869.4:p.Arg17677Ter | |
| NM_133432.3:c.33913C>T (TTN) | NP_597676.3:p.Arg11305Ter | |
| NM_133437.4:c.34114C>T (TTN) | NP_597681.4:p.Arg11372Ter | |
| NR_038271.1:n.597-6604G>A (TTN-AS1) | ||
| NR_038272.1:n.3189-147G>A (TTN-AS1) | ||
| XM_011511729.1:c.59830C>T (TTN) | XP_011510031.1:p.Arg19944Ter | |
| XM_011511730.1:c.33724C>T (TTN) | XP_011510032.1:p.Arg11242Ter | |
| XM_011511731.1:c.33583C>T (TTN) | XP_011510033.1:p.Arg11195Ter | |
| XM_017004819.1:c.59626C>T (TTN) | XP_016860308.1:p.Arg19876Ter | |
| XM_017004820.1:c.55024C>T (TTN) | XP_016860309.1:p.Arg18342Ter | |
| XM_017004821.1:c.55021C>T (TTN) | XP_016860310.1:p.Arg18341Ter | |
| XM_017004822.1:c.52063C>T (TTN) | XP_016860311.1:p.Arg17355Ter | |
| XM_017004823.1:c.33679C>T (TTN) | XP_016860312.1:p.Arg11227Ter | |
| XM_024453094.1:c.55174C>T (TTN) | XP_024308862.1:p.Arg18392Ter | |
| XM_024453095.1:c.55171C>T (TTN) | XP_024308863.1:p.Arg18391Ter | |
| XM_024453096.1:c.54604C>T (TTN) | XP_024308864.1:p.Arg18202Ter | |
| XM_024453097.1:c.51946C>T (TTN) | XP_024308865.1:p.Arg17316Ter | |
| XM_024453098.1:c.51865C>T (TTN) | XP_024308866.1:p.Arg17289Ter | |
| XM_024453099.1:c.33628C>T (TTN) | XP_024308867.1:p.Arg11210Ter | |
| XM_024453100.1:c.23482C>T (TTN) | XP_024308868.1:p.Arg7828Ter |