Linked Data
ClinVar Variation Id:
47499
dbSNP Id:
rs370479059
ExAC:
2:179417003 A / G
gnomAD v2:
2-179417003-A-G
gnomAD v3:
2-178552276-A-G
gnomAD v4:
2-178552276-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178552276A>G , CM000664.2:g.178552276A>G | GRCh38 |
| NC_000002.11:g.179417003A>G , CM000664.1:g.179417003A>G | GRCh37 |
| NC_000002.10:g.179125249A>G | NCBI36 |
| NG_011618.3:g.283527T>C , LRG_391:g.283527T>C | |
| NG_051363.1:g.34450A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.82920T>C (TTN) | ENSP00000343764.6:p.Asn27640= | |
| ENST00000342175.11:c.64005T>C (TTN) | ENSP00000340554.6:p.Asn21335= | |
| ENST00000359218.10:c.63804T>C (TTN) | ENSP00000352154.5:p.Asn21268= | |
| ENST00000342175.10:c.64005T>C (TTN) | ENSP00000340554.6:p.Asn21335= | |
| ENST00000342992.10:c.82920T>C (TTN) | ENSP00000343764.6:p.Asn27640= | |
| ENST00000359218.9:c.63804T>C (TTN) | ENSP00000352154.5:p.Asn21268= | |
| ENST00000460472.6:c.63429T>C (TTN) | ENSP00000434586.1:p.Asn21143= | |
| ENST00000589042.5:c.90624T>C (TTN) MANE Select | ENSP00000467141.1:p.Asn30208= | |
| ENST00000591111.5:c.85701T>C (TTN) | ENSP00000465570.1:p.Asn28567= | |
| ENST00000615779.4:c.85701T>C (TTN) | ENSP00000483597.1:p.Asn28567= | |
| NM_001256850.1:c.85701T>C (TTN) | NP_001243779.1:p.Asn28567= | |
| NM_001267550.2:c.90624T>C (TTN) MANE Select | NP_001254479.2:p.Asn30208= | |
| NM_003319.4:c.63429T>C (TTN) | NP_003310.4:p.Asn21143= | |
| NM_133378.4:c.82920T>C (TTN) | NP_596869.4:p.Asn27640= | |
| NM_133432.3:c.63804T>C (TTN) | NP_597676.3:p.Asn21268= | |
| NM_133437.4:c.64005T>C (TTN) | NP_597681.4:p.Asn21335= | |
| NR_038271.1:n.447-19024A>G (TTN-AS1) | ||
| NR_038272.1:n.2043+9915A>G (TTN-AS1) | ||
| XM_011511729.1:c.89721T>C (TTN) | XP_011510031.1:p.Asn29907= | |
| XM_011511730.1:c.63615T>C (TTN) | XP_011510032.1:p.Asn21205= | |
| XM_011511731.1:c.63474T>C (TTN) | XP_011510033.1:p.Asn21158= | |
| XM_017004819.1:c.89517T>C (TTN) | XP_016860308.1:p.Asn29839= | |
| XM_017004820.1:c.84915T>C (TTN) | XP_016860309.1:p.Asn28305= | |
| XM_017004821.1:c.84912T>C (TTN) | XP_016860310.1:p.Asn28304= | |
| XM_017004822.1:c.81954T>C (TTN) | XP_016860311.1:p.Asn27318= | |
| XM_017004823.1:c.63570T>C (TTN) | XP_016860312.1:p.Asn21190= | |
| XM_024453094.1:c.85065T>C (TTN) | XP_024308862.1:p.Asn28355= | |
| XM_024453095.1:c.85062T>C (TTN) | XP_024308863.1:p.Asn28354= | |
| XM_024453096.1:c.84495T>C (TTN) | XP_024308864.1:p.Asn28165= | |
| XM_024453097.1:c.81837T>C (TTN) | XP_024308865.1:p.Asn27279= | |
| XM_024453098.1:c.81756T>C (TTN) | XP_024308866.1:p.Asn27252= | |
| XM_024453099.1:c.63519T>C (TTN) | XP_024308867.1:p.Asn21173= | |
| XM_024453100.1:c.53373T>C (TTN) | XP_024308868.1:p.Asn17791= |