Linked Data
ClinVar Variation Id:
228139
dbSNP Id:
rs201380749
ExAC:
2:179437089 A / G
gnomAD v2:
2-179437089-A-G
gnomAD v3:
2-178572362-A-G
gnomAD v4:
2-178572362-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178572362A>G , CM000664.2:g.178572362A>G | GRCh38 |
| NC_000002.11:g.179437089A>G , CM000664.1:g.179437089A>G | GRCh37 |
| NC_000002.10:g.179145335A>G | NCBI36 |
| NG_011618.3:g.263441T>C , LRG_391:g.263441T>C | |
| NG_051363.1:g.54536A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.66066T>C (TTN) | ENSP00000343764.6:p.Tyr22022= | |
| ENST00000342175.11:c.47151T>C (TTN) | ENSP00000340554.6:p.Tyr15717= | |
| ENST00000359218.10:c.46950T>C (TTN) | ENSP00000352154.5:p.Tyr15650= | |
| ENST00000342175.10:c.47151T>C (TTN) | ENSP00000340554.6:p.Tyr15717= | |
| ENST00000342992.10:c.66066T>C (TTN) | ENSP00000343764.6:p.Tyr22022= | |
| ENST00000359218.9:c.46950T>C (TTN) | ENSP00000352154.5:p.Tyr15650= | |
| ENST00000460472.6:c.46575T>C (TTN) | ENSP00000434586.1:p.Tyr15525= | |
| ENST00000589042.5:c.73770T>C (TTN) MANE Select | ENSP00000467141.1:p.Tyr24590= | |
| ENST00000591111.5:c.68847T>C (TTN) | ENSP00000465570.1:p.Tyr22949= | |
| ENST00000615779.4:c.68847T>C (TTN) | ENSP00000483597.1:p.Tyr22949= | |
| NM_001256850.1:c.68847T>C (TTN) | NP_001243779.1:p.Tyr22949= | |
| NM_001267550.2:c.73770T>C (TTN) MANE Select | NP_001254479.2:p.Tyr24590= | |
| NM_003319.4:c.46575T>C (TTN) | NP_003310.4:p.Tyr15525= | |
| NM_133378.4:c.66066T>C (TTN) | NP_596869.4:p.Tyr22022= | |
| NM_133432.3:c.46950T>C (TTN) | NP_597676.3:p.Tyr15650= | |
| NM_133437.4:c.47151T>C (TTN) | NP_597681.4:p.Tyr15717= | |
| NR_038271.1:n.596+913A>G (TTN-AS1) | ||
| NR_038272.1:n.2044-10210A>G (TTN-AS1) | ||
| XM_011511729.1:c.72867T>C (TTN) | XP_011510031.1:p.Tyr24289= | |
| XM_011511730.1:c.46761T>C (TTN) | XP_011510032.1:p.Tyr15587= | |
| XM_011511731.1:c.46620T>C (TTN) | XP_011510033.1:p.Tyr15540= | |
| XM_017004819.1:c.72663T>C (TTN) | XP_016860308.1:p.Tyr24221= | |
| XM_017004820.1:c.68061T>C (TTN) | XP_016860309.1:p.Tyr22687= | |
| XM_017004821.1:c.68058T>C (TTN) | XP_016860310.1:p.Tyr22686= | |
| XM_017004822.1:c.65100T>C (TTN) | XP_016860311.1:p.Tyr21700= | |
| XM_017004823.1:c.46716T>C (TTN) | XP_016860312.1:p.Tyr15572= | |
| XM_024453094.1:c.68211T>C (TTN) | XP_024308862.1:p.Tyr22737= | |
| XM_024453095.1:c.68208T>C (TTN) | XP_024308863.1:p.Tyr22736= | |
| XM_024453096.1:c.67641T>C (TTN) | XP_024308864.1:p.Tyr22547= | |
| XM_024453097.1:c.64983T>C (TTN) | XP_024308865.1:p.Tyr21661= | |
| XM_024453098.1:c.64902T>C (TTN) | XP_024308866.1:p.Tyr21634= | |
| XM_024453099.1:c.46665T>C (TTN) | XP_024308867.1:p.Tyr15555= | |
| XM_024453100.1:c.36519T>C (TTN) | XP_024308868.1:p.Tyr12173= |