Linked Data
ClinVar Variation Id:
405026
dbSNP Id:
rs771635198
ExAC:
2:179411328 G / A
gnomAD v2:
2-179411328-G-A
gnomAD v3:
2-178546601-G-A
gnomAD v4:
2-178546601-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178546601G>A , CM000664.2:g.178546601G>A | GRCh38 |
| NC_000002.11:g.179411328G>A , CM000664.1:g.179411328G>A | GRCh37 |
| NC_000002.10:g.179119574G>A | NCBI36 |
| NG_011618.3:g.289202C>T , LRG_391:g.289202C>T | |
| NG_051363.1:g.28775G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.87123C>T (TTN) | ENSP00000343764.6:p.Tyr29041= | |
| ENST00000342175.11:c.68208C>T (TTN) | ENSP00000340554.6:p.Tyr22736= | |
| ENST00000359218.10:c.68007C>T (TTN) | ENSP00000352154.5:p.Tyr22669= | |
| ENST00000342175.10:c.68208C>T (TTN) | ENSP00000340554.6:p.Tyr22736= | |
| ENST00000342992.10:c.87123C>T (TTN) | ENSP00000343764.6:p.Tyr29041= | |
| ENST00000359218.9:c.68007C>T (TTN) | ENSP00000352154.5:p.Tyr22669= | |
| ENST00000460472.6:c.67632C>T (TTN) | ENSP00000434586.1:p.Tyr22544= | |
| ENST00000589042.5:c.94827C>T (TTN) MANE Select | ENSP00000467141.1:p.Tyr31609= | |
| ENST00000591111.5:c.89904C>T (TTN) | ENSP00000465570.1:p.Tyr29968= | |
| ENST00000615779.4:c.89904C>T (TTN) | ENSP00000483597.1:p.Tyr29968= | |
| NM_001256850.1:c.89904C>T (TTN) | NP_001243779.1:p.Tyr29968= | |
| NM_001267550.2:c.94827C>T (TTN) MANE Select | NP_001254479.2:p.Tyr31609= | |
| NM_003319.4:c.67632C>T (TTN) | NP_003310.4:p.Tyr22544= | |
| NM_133378.4:c.87123C>T (TTN) | NP_596869.4:p.Tyr29041= | |
| NM_133432.3:c.68007C>T (TTN) | NP_597676.3:p.Tyr22669= | |
| NM_133437.4:c.68208C>T (TTN) | NP_597681.4:p.Tyr22736= | |
| NR_038271.1:n.446+22965G>A (TTN-AS1) | ||
| NR_038272.1:n.2043+4240G>A (TTN-AS1) | ||
| XM_011511729.1:c.93924C>T (TTN) | XP_011510031.1:p.Tyr31308= | |
| XM_011511730.1:c.67818C>T (TTN) | XP_011510032.1:p.Tyr22606= | |
| XM_011511731.1:c.67677C>T (TTN) | XP_011510033.1:p.Tyr22559= | |
| XM_017004819.1:c.93720C>T (TTN) | XP_016860308.1:p.Tyr31240= | |
| XM_017004820.1:c.89118C>T (TTN) | XP_016860309.1:p.Tyr29706= | |
| XM_017004821.1:c.89115C>T (TTN) | XP_016860310.1:p.Tyr29705= | |
| XM_017004822.1:c.86157C>T (TTN) | XP_016860311.1:p.Tyr28719= | |
| XM_017004823.1:c.67773C>T (TTN) | XP_016860312.1:p.Tyr22591= | |
| XM_024453094.1:c.89268C>T (TTN) | XP_024308862.1:p.Tyr29756= | |
| XM_024453095.1:c.89265C>T (TTN) | XP_024308863.1:p.Tyr29755= | |
| XM_024453096.1:c.88698C>T (TTN) | XP_024308864.1:p.Tyr29566= | |
| XM_024453097.1:c.86040C>T (TTN) | XP_024308865.1:p.Tyr28680= | |
| XM_024453098.1:c.85959C>T (TTN) | XP_024308866.1:p.Tyr28653= | |
| XM_024453099.1:c.67722C>T (TTN) | XP_024308867.1:p.Tyr22574= | |
| XM_024453100.1:c.57576C>T (TTN) | XP_024308868.1:p.Tyr19192= |