Linked Data
ClinVar Variation Id:
332757
dbSNP Id:
rs368850871
ExAC:
2:179428127 T / C
gnomAD v2:
2-179428127-T-C
gnomAD v3:
2-178563400-T-C
gnomAD v4:
2-178563400-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178563400T>C , CM000664.2:g.178563400T>C | GRCh38 |
| NC_000002.11:g.179428127T>C , CM000664.1:g.179428127T>C | GRCh37 |
| NC_000002.10:g.179136373T>C | NCBI36 |
| NG_011618.3:g.272403A>G , LRG_391:g.272403A>G | |
| NG_051363.1:g.45574T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.75028A>G (TTN) | ENSP00000343764.6:p.Lys25010Glu | |
| ENST00000342175.11:c.56113A>G (TTN) | ENSP00000340554.6:p.Lys18705Glu | |
| ENST00000359218.10:c.55912A>G (TTN) | ENSP00000352154.5:p.Lys18638Glu | |
| ENST00000342175.10:c.56113A>G (TTN) | ENSP00000340554.6:p.Lys18705Glu | |
| ENST00000342992.10:c.75028A>G (TTN) | ENSP00000343764.6:p.Lys25010Glu | |
| ENST00000359218.9:c.55912A>G (TTN) | ENSP00000352154.5:p.Lys18638Glu | |
| ENST00000460472.6:c.55537A>G (TTN) | ENSP00000434586.1:p.Lys18513Glu | |
| ENST00000589042.5:c.82732A>G (TTN) MANE Select | ENSP00000467141.1:p.Lys27578Glu | |
| ENST00000591111.5:c.77809A>G (TTN) | ENSP00000465570.1:p.Lys25937Glu | |
| ENST00000615779.4:c.77809A>G (TTN) | ENSP00000483597.1:p.Lys25937Glu | |
| NM_001256850.1:c.77809A>G (TTN) | NP_001243779.1:p.Lys25937Glu | |
| NM_001267550.2:c.82732A>G (TTN) MANE Select | NP_001254479.2:p.Lys27578Glu | |
| NM_003319.4:c.55537A>G (TTN) | NP_003310.4:p.Lys18513Glu | |
| NM_133378.4:c.75028A>G (TTN) | NP_596869.4:p.Lys25010Glu | |
| NM_133432.3:c.55912A>G (TTN) | NP_597676.3:p.Lys18638Glu | |
| NM_133437.4:c.56113A>G (TTN) | NP_597681.4:p.Lys18705Glu | |
| NR_038271.1:n.447-7900T>C (TTN-AS1) | ||
| NR_038272.1:n.2044-19172T>C (TTN-AS1) | ||
| XM_011511729.1:c.81829A>G (TTN) | XP_011510031.1:p.Lys27277Glu | |
| XM_011511730.1:c.55723A>G (TTN) | XP_011510032.1:p.Lys18575Glu | |
| XM_011511731.1:c.55582A>G (TTN) | XP_011510033.1:p.Lys18528Glu | |
| XM_017004819.1:c.81625A>G (TTN) | XP_016860308.1:p.Lys27209Glu | |
| XM_017004820.1:c.77023A>G (TTN) | XP_016860309.1:p.Lys25675Glu | |
| XM_017004821.1:c.77020A>G (TTN) | XP_016860310.1:p.Lys25674Glu | |
| XM_017004822.1:c.74062A>G (TTN) | XP_016860311.1:p.Lys24688Glu | |
| XM_017004823.1:c.55678A>G (TTN) | XP_016860312.1:p.Lys18560Glu | |
| XM_024453094.1:c.77173A>G (TTN) | XP_024308862.1:p.Lys25725Glu | |
| XM_024453095.1:c.77170A>G (TTN) | XP_024308863.1:p.Lys25724Glu | |
| XM_024453096.1:c.76603A>G (TTN) | XP_024308864.1:p.Lys25535Glu | |
| XM_024453097.1:c.73945A>G (TTN) | XP_024308865.1:p.Lys24649Glu | |
| XM_024453098.1:c.73864A>G (TTN) | XP_024308866.1:p.Lys24622Glu | |
| XM_024453099.1:c.55627A>G (TTN) | XP_024308867.1:p.Lys18543Glu | |
| XM_024453100.1:c.45481A>G (TTN) | XP_024308868.1:p.Lys15161Glu |