Linked Data
ClinVar Variation Id:
47043
dbSNP Id:
rs374672630
ExAC:
2:179476651 A / G
gnomAD v2:
2-179476651-A-G
gnomAD v3:
2-178611924-A-G
gnomAD v4:
2-178611924-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178611924A>G , CM000664.2:g.178611924A>G | GRCh38 |
| NC_000002.11:g.179476651A>G , CM000664.1:g.179476651A>G | GRCh37 |
| NC_000002.10:g.179184896A>G | NCBI36 |
| NG_011618.3:g.223879T>C , LRG_391:g.223879T>C | |
| NG_051363.1:g.94098A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.42681T>C (TTN) | ENSP00000343764.6:p.Gly14227= | |
| ENST00000342175.11:c.23766T>C (TTN) | ENSP00000340554.6:p.Gly7922= | |
| ENST00000359218.10:c.23565T>C (TTN) | ENSP00000352154.5:p.Gly7855= | |
| ENST00000342175.10:c.23766T>C (TTN) | ENSP00000340554.6:p.Gly7922= | |
| ENST00000342992.10:c.42681T>C (TTN) | ENSP00000343764.6:p.Gly14227= | |
| ENST00000359218.9:c.23565T>C (TTN) | ENSP00000352154.5:p.Gly7855= | |
| ENST00000460472.6:c.23190T>C (TTN) | ENSP00000434586.1:p.Gly7730= | |
| ENST00000589042.5:c.50385T>C (TTN) MANE Select | ENSP00000467141.1:p.Gly16795= | |
| ENST00000591111.5:c.45462T>C (TTN) | ENSP00000465570.1:p.Gly15154= | |
| ENST00000615779.4:c.45462T>C (TTN) | ENSP00000483597.1:p.Gly15154= | |
| NM_001256850.1:c.45462T>C (TTN) | NP_001243779.1:p.Gly15154= | |
| NM_001267550.2:c.50385T>C (TTN) MANE Select | NP_001254479.2:p.Gly16795= | |
| NM_003319.4:c.23190T>C (TTN) | NP_003310.4:p.Gly7730= | |
| NM_133378.4:c.42681T>C (TTN) | NP_596869.4:p.Gly14227= | |
| NM_133432.3:c.23565T>C (TTN) | NP_597676.3:p.Gly7855= | |
| NM_133437.4:c.23766T>C (TTN) | NP_597681.4:p.Gly7922= | |
| NR_038271.1:n.783-2111A>G (TTN-AS1) | ||
| XM_011511729.1:c.49482T>C (TTN) | XP_011510031.1:p.Gly16494= | |
| XM_011511730.1:c.23376T>C (TTN) | XP_011510032.1:p.Gly7792= | |
| XM_011511731.1:c.23235T>C (TTN) | XP_011510033.1:p.Gly7745= | |
| XM_017004819.1:c.49278T>C (TTN) | XP_016860308.1:p.Gly16426= | |
| XM_017004820.1:c.44676T>C (TTN) | XP_016860309.1:p.Gly14892= | |
| XM_017004821.1:c.44673T>C (TTN) | XP_016860310.1:p.Gly14891= | |
| XM_017004822.1:c.41715T>C (TTN) | XP_016860311.1:p.Gly13905= | |
| XM_017004823.1:c.23331T>C (TTN) | XP_016860312.1:p.Gly7777= | |
| XM_024453094.1:c.44826T>C (TTN) | XP_024308862.1:p.Gly14942= | |
| XM_024453095.1:c.44823T>C (TTN) | XP_024308863.1:p.Gly14941= | |
| XM_024453096.1:c.44256T>C (TTN) | XP_024308864.1:p.Gly14752= | |
| XM_024453097.1:c.41598T>C (TTN) | XP_024308865.1:p.Gly13866= | |
| XM_024453098.1:c.41517T>C (TTN) | XP_024308866.1:p.Gly13839= | |
| XM_024453099.1:c.23280T>C (TTN) | XP_024308867.1:p.Gly7760= | |
| XM_024453100.1:c.13134T>C (TTN) | XP_024308868.1:p.Gly4378= |