Linked Data
ClinVar Variation Id:
500813
dbSNP Id:
rs375076970
ExAC:
2:179409151 G / A
gnomAD v2:
2-179409151-G-A
gnomAD v3:
2-178544424-G-A
gnomAD v4:
2-178544424-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178544424G>A , CM000664.2:g.178544424G>A | GRCh38 |
| NC_000002.11:g.179409151G>A , CM000664.1:g.179409151G>A | GRCh37 |
| NC_000002.10:g.179117397G>A | NCBI36 |
| NG_011618.3:g.291379C>T , LRG_391:g.291379C>T | |
| NG_051363.1:g.26598G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.88101C>T (TTN) | ENSP00000343764.6:p.Tyr29367= | |
| ENST00000342175.11:c.69186C>T (TTN) | ENSP00000340554.6:p.Tyr23062= | |
| ENST00000359218.10:c.68985C>T (TTN) | ENSP00000352154.5:p.Tyr22995= | |
| ENST00000342175.10:c.69186C>T (TTN) | ENSP00000340554.6:p.Tyr23062= | |
| ENST00000342992.10:c.88101C>T (TTN) | ENSP00000343764.6:p.Tyr29367= | |
| ENST00000359218.9:c.68985C>T (TTN) | ENSP00000352154.5:p.Tyr22995= | |
| ENST00000460472.6:c.68610C>T (TTN) | ENSP00000434586.1:p.Tyr22870= | |
| ENST00000589042.5:c.95805C>T (TTN) MANE Select | ENSP00000467141.1:p.Tyr31935= | |
| ENST00000591111.5:c.90882C>T (TTN) | ENSP00000465570.1:p.Tyr30294= | |
| ENST00000615779.4:c.90882C>T (TTN) | ENSP00000483597.1:p.Tyr30294= | |
| NM_001256850.1:c.90882C>T (TTN) | NP_001243779.1:p.Tyr30294= | |
| NM_001267550.2:c.95805C>T (TTN) MANE Select | NP_001254479.2:p.Tyr31935= | |
| NM_003319.4:c.68610C>T (TTN) | NP_003310.4:p.Tyr22870= | |
| NM_133378.4:c.88101C>T (TTN) | NP_596869.4:p.Tyr29367= | |
| NM_133432.3:c.68985C>T (TTN) | NP_597676.3:p.Tyr22995= | |
| NM_133437.4:c.69186C>T (TTN) | NP_597681.4:p.Tyr23062= | |
| NR_038271.1:n.446+20788G>A (TTN-AS1) | ||
| NR_038272.1:n.2043+2063G>A (TTN-AS1) | ||
| XM_011511729.1:c.94902C>T (TTN) | XP_011510031.1:p.Tyr31634= | |
| XM_011511730.1:c.68796C>T (TTN) | XP_011510032.1:p.Tyr22932= | |
| XM_011511731.1:c.68655C>T (TTN) | XP_011510033.1:p.Tyr22885= | |
| XM_017004819.1:c.94698C>T (TTN) | XP_016860308.1:p.Tyr31566= | |
| XM_017004820.1:c.90096C>T (TTN) | XP_016860309.1:p.Tyr30032= | |
| XM_017004821.1:c.90093C>T (TTN) | XP_016860310.1:p.Tyr30031= | |
| XM_017004822.1:c.87135C>T (TTN) | XP_016860311.1:p.Tyr29045= | |
| XM_017004823.1:c.68751C>T (TTN) | XP_016860312.1:p.Tyr22917= | |
| XM_024453094.1:c.90246C>T (TTN) | XP_024308862.1:p.Tyr30082= | |
| XM_024453095.1:c.90243C>T (TTN) | XP_024308863.1:p.Tyr30081= | |
| XM_024453096.1:c.89676C>T (TTN) | XP_024308864.1:p.Tyr29892= | |
| XM_024453097.1:c.87018C>T (TTN) | XP_024308865.1:p.Tyr29006= | |
| XM_024453098.1:c.86937C>T (TTN) | XP_024308866.1:p.Tyr28979= | |
| XM_024453099.1:c.68700C>T (TTN) | XP_024308867.1:p.Tyr22900= | |
| XM_024453100.1:c.58554C>T (TTN) | XP_024308868.1:p.Tyr19518= |