Linked Data
ClinVar Variation Id:
332734
dbSNP Id:
rs117097948
ExAC:
2:179417703 G / A
gnomAD v2:
2-179417703-G-A
gnomAD v3:
2-178552976-G-A
gnomAD v4:
2-178552976-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178552976G>A , CM000664.2:g.178552976G>A | GRCh38 |
| NC_000002.11:g.179417703G>A , CM000664.1:g.179417703G>A | GRCh37 |
| NC_000002.10:g.179125949G>A | NCBI36 |
| NG_011618.3:g.282827C>T , LRG_391:g.282827C>T | |
| NG_051363.1:g.35150G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.82220C>T (TTN) | ENSP00000343764.6:p.Ala27407Val | |
| ENST00000342175.11:c.63305C>T (TTN) | ENSP00000340554.6:p.Ala21102Val | |
| ENST00000359218.10:c.63104C>T (TTN) | ENSP00000352154.5:p.Ala21035Val | |
| ENST00000342175.10:c.63305C>T (TTN) | ENSP00000340554.6:p.Ala21102Val | |
| ENST00000342992.10:c.82220C>T (TTN) | ENSP00000343764.6:p.Ala27407Val | |
| ENST00000359218.9:c.63104C>T (TTN) | ENSP00000352154.5:p.Ala21035Val | |
| ENST00000460472.6:c.62729C>T (TTN) | ENSP00000434586.1:p.Ala20910Val | |
| ENST00000589042.5:c.89924C>T (TTN) MANE Select | ENSP00000467141.1:p.Ala29975Val | |
| ENST00000591111.5:c.85001C>T (TTN) | ENSP00000465570.1:p.Ala28334Val | |
| ENST00000615779.4:c.85001C>T (TTN) | ENSP00000483597.1:p.Ala28334Val | |
| NM_001256850.1:c.85001C>T (TTN) | NP_001243779.1:p.Ala28334Val | |
| NM_001267550.2:c.89924C>T (TTN) MANE Select | NP_001254479.2:p.Ala29975Val | |
| NM_003319.4:c.62729C>T (TTN) | NP_003310.4:p.Ala20910Val | |
| NM_133378.4:c.82220C>T (TTN) | NP_596869.4:p.Ala27407Val | |
| NM_133432.3:c.63104C>T (TTN) | NP_597676.3:p.Ala21035Val | |
| NM_133437.4:c.63305C>T (TTN) | NP_597681.4:p.Ala21102Val | |
| NR_038271.1:n.447-18324G>A (TTN-AS1) | ||
| NR_038272.1:n.2043+10615G>A (TTN-AS1) | ||
| XM_011511729.1:c.89021C>T (TTN) | XP_011510031.1:p.Ala29674Val | |
| XM_011511730.1:c.62915C>T (TTN) | XP_011510032.1:p.Ala20972Val | |
| XM_011511731.1:c.62774C>T (TTN) | XP_011510033.1:p.Ala20925Val | |
| XM_017004819.1:c.88817C>T (TTN) | XP_016860308.1:p.Ala29606Val | |
| XM_017004820.1:c.84215C>T (TTN) | XP_016860309.1:p.Ala28072Val | |
| XM_017004821.1:c.84212C>T (TTN) | XP_016860310.1:p.Ala28071Val | |
| XM_017004822.1:c.81254C>T (TTN) | XP_016860311.1:p.Ala27085Val | |
| XM_017004823.1:c.62870C>T (TTN) | XP_016860312.1:p.Ala20957Val | |
| XM_024453094.1:c.84365C>T (TTN) | XP_024308862.1:p.Ala28122Val | |
| XM_024453095.1:c.84362C>T (TTN) | XP_024308863.1:p.Ala28121Val | |
| XM_024453096.1:c.83795C>T (TTN) | XP_024308864.1:p.Ala27932Val | |
| XM_024453097.1:c.81137C>T (TTN) | XP_024308865.1:p.Ala27046Val | |
| XM_024453098.1:c.81056C>T (TTN) | XP_024308866.1:p.Ala27019Val | |
| XM_024453099.1:c.62819C>T (TTN) | XP_024308867.1:p.Ala20940Val | |
| XM_024453100.1:c.52673C>T (TTN) | XP_024308868.1:p.Ala17558Val |