Linked Data
ClinVar Variation Id:
467241
dbSNP Id:
rs374254751
ExAC:
2:179474005 A / G
gnomAD v2:
2-179474005-A-G
gnomAD v3:
2-178609278-A-G
gnomAD v4:
2-178609278-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178609278A>G , CM000664.2:g.178609278A>G | GRCh38 |
| NC_000002.11:g.179474005A>G , CM000664.1:g.179474005A>G | GRCh37 |
| NC_000002.10:g.179182250A>G | NCBI36 |
| NG_011618.3:g.226525T>C , LRG_391:g.226525T>C | |
| NG_051363.1:g.91452A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.44328T>C (TTN) | ENSP00000343764.6:p.His14776= | |
| ENST00000342175.11:c.25413T>C (TTN) | ENSP00000340554.6:p.His8471= | |
| ENST00000359218.10:c.25212T>C (TTN) | ENSP00000352154.5:p.His8404= | |
| ENST00000342175.10:c.25413T>C (TTN) | ENSP00000340554.6:p.His8471= | |
| ENST00000342992.10:c.44328T>C (TTN) | ENSP00000343764.6:p.His14776= | |
| ENST00000359218.9:c.25212T>C (TTN) | ENSP00000352154.5:p.His8404= | |
| ENST00000460472.6:c.24837T>C (TTN) | ENSP00000434586.1:p.His8279= | |
| ENST00000589042.5:c.52032T>C (TTN) MANE Select | ENSP00000467141.1:p.His17344= | |
| ENST00000591111.5:c.47109T>C (TTN) | ENSP00000465570.1:p.His15703= | |
| ENST00000615779.4:c.47109T>C (TTN) | ENSP00000483597.1:p.His15703= | |
| NM_001256850.1:c.47109T>C (TTN) | NP_001243779.1:p.His15703= | |
| NM_001267550.2:c.52032T>C (TTN) MANE Select | NP_001254479.2:p.His17344= | |
| NM_003319.4:c.24837T>C (TTN) | NP_003310.4:p.His8279= | |
| NM_133378.4:c.44328T>C (TTN) | NP_596869.4:p.His14776= | |
| NM_133432.3:c.25212T>C (TTN) | NP_597676.3:p.His8404= | |
| NM_133437.4:c.25413T>C (TTN) | NP_597681.4:p.His8471= | |
| NR_038271.1:n.782+1012A>G (TTN-AS1) | ||
| XM_011511729.1:c.51129T>C (TTN) | XP_011510031.1:p.His17043= | |
| XM_011511730.1:c.25023T>C (TTN) | XP_011510032.1:p.His8341= | |
| XM_011511731.1:c.24882T>C (TTN) | XP_011510033.1:p.His8294= | |
| XM_017004819.1:c.50925T>C (TTN) | XP_016860308.1:p.His16975= | |
| XM_017004820.1:c.46323T>C (TTN) | XP_016860309.1:p.His15441= | |
| XM_017004821.1:c.46320T>C (TTN) | XP_016860310.1:p.His15440= | |
| XM_017004822.1:c.43362T>C (TTN) | XP_016860311.1:p.His14454= | |
| XM_017004823.1:c.24978T>C (TTN) | XP_016860312.1:p.His8326= | |
| XM_024453094.1:c.46473T>C (TTN) | XP_024308862.1:p.His15491= | |
| XM_024453095.1:c.46470T>C (TTN) | XP_024308863.1:p.His15490= | |
| XM_024453096.1:c.45903T>C (TTN) | XP_024308864.1:p.His15301= | |
| XM_024453097.1:c.43245T>C (TTN) | XP_024308865.1:p.His14415= | |
| XM_024453098.1:c.43164T>C (TTN) | XP_024308866.1:p.His14388= | |
| XM_024453099.1:c.24927T>C (TTN) | XP_024308867.1:p.His8309= | |
| XM_024453100.1:c.14781T>C (TTN) | XP_024308868.1:p.His4927= |