Linked Data
ClinVar Variation Id:
497188
dbSNP Id:
rs373722546
ExAC:
2:179416936 G / A
gnomAD v2:
2-179416936-G-A
gnomAD v3:
2-178552209-G-A
gnomAD v4:
2-178552209-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178552209G>A , CM000664.2:g.178552209G>A | GRCh38 |
| NC_000002.11:g.179416936G>A , CM000664.1:g.179416936G>A | GRCh37 |
| NC_000002.10:g.179125182G>A | NCBI36 |
| NG_011618.3:g.283594C>T , LRG_391:g.283594C>T | |
| NG_051363.1:g.34383G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.82987C>T (TTN) | ENSP00000343764.6:p.Pro27663Ser | |
| ENST00000342175.11:c.64072C>T (TTN) | ENSP00000340554.6:p.Pro21358Ser | |
| ENST00000359218.10:c.63871C>T (TTN) | ENSP00000352154.5:p.Pro21291Ser | |
| ENST00000342175.10:c.64072C>T (TTN) | ENSP00000340554.6:p.Pro21358Ser | |
| ENST00000342992.10:c.82987C>T (TTN) | ENSP00000343764.6:p.Pro27663Ser | |
| ENST00000359218.9:c.63871C>T (TTN) | ENSP00000352154.5:p.Pro21291Ser | |
| ENST00000460472.6:c.63496C>T (TTN) | ENSP00000434586.1:p.Pro21166Ser | |
| ENST00000589042.5:c.90691C>T (TTN) MANE Select | ENSP00000467141.1:p.Pro30231Ser | |
| ENST00000591111.5:c.85768C>T (TTN) | ENSP00000465570.1:p.Pro28590Ser | |
| ENST00000615779.4:c.85768C>T (TTN) | ENSP00000483597.1:p.Pro28590Ser | |
| NM_001256850.1:c.85768C>T (TTN) | NP_001243779.1:p.Pro28590Ser | |
| NM_001267550.2:c.90691C>T (TTN) MANE Select | NP_001254479.2:p.Pro30231Ser | |
| NM_003319.4:c.63496C>T (TTN) | NP_003310.4:p.Pro21166Ser | |
| NM_133378.4:c.82987C>T (TTN) | NP_596869.4:p.Pro27663Ser | |
| NM_133432.3:c.63871C>T (TTN) | NP_597676.3:p.Pro21291Ser | |
| NM_133437.4:c.64072C>T (TTN) | NP_597681.4:p.Pro21358Ser | |
| NR_038271.1:n.447-19091G>A (TTN-AS1) | ||
| NR_038272.1:n.2043+9848G>A (TTN-AS1) | ||
| XM_011511729.1:c.89788C>T (TTN) | XP_011510031.1:p.Pro29930Ser | |
| XM_011511730.1:c.63682C>T (TTN) | XP_011510032.1:p.Pro21228Ser | |
| XM_011511731.1:c.63541C>T (TTN) | XP_011510033.1:p.Pro21181Ser | |
| XM_017004819.1:c.89584C>T (TTN) | XP_016860308.1:p.Pro29862Ser | |
| XM_017004820.1:c.84982C>T (TTN) | XP_016860309.1:p.Pro28328Ser | |
| XM_017004821.1:c.84979C>T (TTN) | XP_016860310.1:p.Pro28327Ser | |
| XM_017004822.1:c.82021C>T (TTN) | XP_016860311.1:p.Pro27341Ser | |
| XM_017004823.1:c.63637C>T (TTN) | XP_016860312.1:p.Pro21213Ser | |
| XM_024453094.1:c.85132C>T (TTN) | XP_024308862.1:p.Pro28378Ser | |
| XM_024453095.1:c.85129C>T (TTN) | XP_024308863.1:p.Pro28377Ser | |
| XM_024453096.1:c.84562C>T (TTN) | XP_024308864.1:p.Pro28188Ser | |
| XM_024453097.1:c.81904C>T (TTN) | XP_024308865.1:p.Pro27302Ser | |
| XM_024453098.1:c.81823C>T (TTN) | XP_024308866.1:p.Pro27275Ser | |
| XM_024453099.1:c.63586C>T (TTN) | XP_024308867.1:p.Pro21196Ser | |
| XM_024453100.1:c.53440C>T (TTN) | XP_024308868.1:p.Pro17814Ser |