Linked Data
ClinVar Variation Id:
499313
dbSNP Id:
rs765307374
ExAC:
2:179417033 A / G
gnomAD v2:
2-179417033-A-G
gnomAD v3:
2-178552306-A-G
gnomAD v4:
2-178552306-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178552306A>G , CM000664.2:g.178552306A>G | GRCh38 |
| NC_000002.11:g.179417033A>G , CM000664.1:g.179417033A>G | GRCh37 |
| NC_000002.10:g.179125279A>G | NCBI36 |
| NG_011618.3:g.283497T>C , LRG_391:g.283497T>C | |
| NG_051363.1:g.34480A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.82890T>C (TTN) | ENSP00000343764.6:p.His27630= | |
| ENST00000342175.11:c.63975T>C (TTN) | ENSP00000340554.6:p.His21325= | |
| ENST00000359218.10:c.63774T>C (TTN) | ENSP00000352154.5:p.His21258= | |
| ENST00000342175.10:c.63975T>C (TTN) | ENSP00000340554.6:p.His21325= | |
| ENST00000342992.10:c.82890T>C (TTN) | ENSP00000343764.6:p.His27630= | |
| ENST00000359218.9:c.63774T>C (TTN) | ENSP00000352154.5:p.His21258= | |
| ENST00000460472.6:c.63399T>C (TTN) | ENSP00000434586.1:p.His21133= | |
| ENST00000589042.5:c.90594T>C (TTN) MANE Select | ENSP00000467141.1:p.His30198= | |
| ENST00000591111.5:c.85671T>C (TTN) | ENSP00000465570.1:p.His28557= | |
| ENST00000615779.4:c.85671T>C (TTN) | ENSP00000483597.1:p.His28557= | |
| NM_001256850.1:c.85671T>C (TTN) | NP_001243779.1:p.His28557= | |
| NM_001267550.2:c.90594T>C (TTN) MANE Select | NP_001254479.2:p.His30198= | |
| NM_003319.4:c.63399T>C (TTN) | NP_003310.4:p.His21133= | |
| NM_133378.4:c.82890T>C (TTN) | NP_596869.4:p.His27630= | |
| NM_133432.3:c.63774T>C (TTN) | NP_597676.3:p.His21258= | |
| NM_133437.4:c.63975T>C (TTN) | NP_597681.4:p.His21325= | |
| NR_038271.1:n.447-18994A>G (TTN-AS1) | ||
| NR_038272.1:n.2043+9945A>G (TTN-AS1) | ||
| XM_011511729.1:c.89691T>C (TTN) | XP_011510031.1:p.His29897= | |
| XM_011511730.1:c.63585T>C (TTN) | XP_011510032.1:p.His21195= | |
| XM_011511731.1:c.63444T>C (TTN) | XP_011510033.1:p.His21148= | |
| XM_017004819.1:c.89487T>C (TTN) | XP_016860308.1:p.His29829= | |
| XM_017004820.1:c.84885T>C (TTN) | XP_016860309.1:p.His28295= | |
| XM_017004821.1:c.84882T>C (TTN) | XP_016860310.1:p.His28294= | |
| XM_017004822.1:c.81924T>C (TTN) | XP_016860311.1:p.His27308= | |
| XM_017004823.1:c.63540T>C (TTN) | XP_016860312.1:p.His21180= | |
| XM_024453094.1:c.85035T>C (TTN) | XP_024308862.1:p.His28345= | |
| XM_024453095.1:c.85032T>C (TTN) | XP_024308863.1:p.His28344= | |
| XM_024453096.1:c.84465T>C (TTN) | XP_024308864.1:p.His28155= | |
| XM_024453097.1:c.81807T>C (TTN) | XP_024308865.1:p.His27269= | |
| XM_024453098.1:c.81726T>C (TTN) | XP_024308866.1:p.His27242= | |
| XM_024453099.1:c.63489T>C (TTN) | XP_024308867.1:p.His21163= | |
| XM_024453100.1:c.53343T>C (TTN) | XP_024308868.1:p.His17781= |