Linked Data
ClinVar Variation Id:
498192
dbSNP Id:
rs542156552
ExAC:
2:179449685 G / C
gnomAD v2:
2-179449685-G-C
gnomAD v3:
2-178584958-G-C
gnomAD v4:
2-178584958-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178584958G>C , CM000664.2:g.178584958G>C | GRCh38 |
| NC_000002.11:g.179449685G>C , CM000664.1:g.179449685G>C | GRCh37 |
| NC_000002.10:g.179157931G>C | NCBI36 |
| NG_011618.3:g.250845C>G , LRG_391:g.250845C>G | |
| NG_051363.1:g.67132G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.56979C>G (TTN) | ENSP00000343764.6:p.Gly18993= | |
| ENST00000342175.11:c.38064C>G (TTN) | ENSP00000340554.6:p.Gly12688= | |
| ENST00000359218.10:c.37863C>G (TTN) | ENSP00000352154.5:p.Gly12621= | |
| ENST00000342175.10:c.38064C>G (TTN) | ENSP00000340554.6:p.Gly12688= | |
| ENST00000342992.10:c.56979C>G (TTN) | ENSP00000343764.6:p.Gly18993= | |
| ENST00000359218.9:c.37863C>G (TTN) | ENSP00000352154.5:p.Gly12621= | |
| ENST00000460472.6:c.37488C>G (TTN) | ENSP00000434586.1:p.Gly12496= | |
| ENST00000589042.5:c.64683C>G (TTN) MANE Select | ENSP00000467141.1:p.Gly21561= | |
| ENST00000591111.5:c.59760C>G (TTN) | ENSP00000465570.1:p.Gly19920= | |
| ENST00000615779.4:c.59760C>G (TTN) | ENSP00000483597.1:p.Gly19920= | |
| NM_001256850.1:c.59760C>G (TTN) | NP_001243779.1:p.Gly19920= | |
| NM_001267550.2:c.64683C>G (TTN) MANE Select | NP_001254479.2:p.Gly21561= | |
| NM_003319.4:c.37488C>G (TTN) | NP_003310.4:p.Gly12496= | |
| NM_133378.4:c.56979C>G (TTN) | NP_596869.4:p.Gly18993= | |
| NM_133432.3:c.37863C>G (TTN) | NP_597676.3:p.Gly12621= | |
| NM_133437.4:c.38064C>G (TTN) | NP_597681.4:p.Gly12688= | |
| NR_038271.1:n.597-12638G>C (TTN-AS1) | ||
| NR_038272.1:n.3153G>C (TTN-AS1) | ||
| XM_011511729.1:c.63780C>G (TTN) | XP_011510031.1:p.Gly21260= | |
| XM_011511730.1:c.37674C>G (TTN) | XP_011510032.1:p.Gly12558= | |
| XM_011511731.1:c.37533C>G (TTN) | XP_011510033.1:p.Gly12511= | |
| XM_017004819.1:c.63576C>G (TTN) | XP_016860308.1:p.Gly21192= | |
| XM_017004820.1:c.58974C>G (TTN) | XP_016860309.1:p.Gly19658= | |
| XM_017004821.1:c.58971C>G (TTN) | XP_016860310.1:p.Gly19657= | |
| XM_017004822.1:c.56013C>G (TTN) | XP_016860311.1:p.Gly18671= | |
| XM_017004823.1:c.37629C>G (TTN) | XP_016860312.1:p.Gly12543= | |
| XM_024453094.1:c.59124C>G (TTN) | XP_024308862.1:p.Gly19708= | |
| XM_024453095.1:c.59121C>G (TTN) | XP_024308863.1:p.Gly19707= | |
| XM_024453096.1:c.58554C>G (TTN) | XP_024308864.1:p.Gly19518= | |
| XM_024453097.1:c.55896C>G (TTN) | XP_024308865.1:p.Gly18632= | |
| XM_024453098.1:c.55815C>G (TTN) | XP_024308866.1:p.Gly18605= | |
| XM_024453099.1:c.37578C>G (TTN) | XP_024308867.1:p.Gly12526= | |
| XM_024453100.1:c.27432C>G (TTN) | XP_024308868.1:p.Gly9144= |