Linked Data
ClinVar Variation Id:
467620
dbSNP Id:
rs375374658
ExAC:
2:179418437 A / G
gnomAD v2:
2-179418437-A-G
gnomAD v3:
2-178553710-A-G
gnomAD v4:
2-178553710-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178553710A>G , CM000664.2:g.178553710A>G | GRCh38 |
| NC_000002.11:g.179418437A>G , CM000664.1:g.179418437A>G | GRCh37 |
| NC_000002.10:g.179126683A>G | NCBI36 |
| NG_011618.3:g.282093T>C , LRG_391:g.282093T>C | |
| NG_051363.1:g.35884A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.81591T>C (TTN) | ENSP00000343764.6:p.Ala27197= | |
| ENST00000342175.11:c.62676T>C (TTN) | ENSP00000340554.6:p.Ala20892= | |
| ENST00000359218.10:c.62475T>C (TTN) | ENSP00000352154.5:p.Ala20825= | |
| ENST00000342175.10:c.62676T>C (TTN) | ENSP00000340554.6:p.Ala20892= | |
| ENST00000342992.10:c.81591T>C (TTN) | ENSP00000343764.6:p.Ala27197= | |
| ENST00000359218.9:c.62475T>C (TTN) | ENSP00000352154.5:p.Ala20825= | |
| ENST00000460472.6:c.62100T>C (TTN) | ENSP00000434586.1:p.Ala20700= | |
| ENST00000589042.5:c.89295T>C (TTN) MANE Select | ENSP00000467141.1:p.Ala29765= | |
| ENST00000591111.5:c.84372T>C (TTN) | ENSP00000465570.1:p.Ala28124= | |
| ENST00000615779.4:c.84372T>C (TTN) | ENSP00000483597.1:p.Ala28124= | |
| NM_001256850.1:c.84372T>C (TTN) | NP_001243779.1:p.Ala28124= | |
| NM_001267550.2:c.89295T>C (TTN) MANE Select | NP_001254479.2:p.Ala29765= | |
| NM_003319.4:c.62100T>C (TTN) | NP_003310.4:p.Ala20700= | |
| NM_133378.4:c.81591T>C (TTN) | NP_596869.4:p.Ala27197= | |
| NM_133432.3:c.62475T>C (TTN) | NP_597676.3:p.Ala20825= | |
| NM_133437.4:c.62676T>C (TTN) | NP_597681.4:p.Ala20892= | |
| NR_038271.1:n.447-17590A>G (TTN-AS1) | ||
| NR_038272.1:n.2043+11349A>G (TTN-AS1) | ||
| XM_011511729.1:c.88392T>C (TTN) | XP_011510031.1:p.Ala29464= | |
| XM_011511730.1:c.62286T>C (TTN) | XP_011510032.1:p.Ala20762= | |
| XM_011511731.1:c.62145T>C (TTN) | XP_011510033.1:p.Ala20715= | |
| XM_017004819.1:c.88188T>C (TTN) | XP_016860308.1:p.Ala29396= | |
| XM_017004820.1:c.83586T>C (TTN) | XP_016860309.1:p.Ala27862= | |
| XM_017004821.1:c.83583T>C (TTN) | XP_016860310.1:p.Ala27861= | |
| XM_017004822.1:c.80625T>C (TTN) | XP_016860311.1:p.Ala26875= | |
| XM_017004823.1:c.62241T>C (TTN) | XP_016860312.1:p.Ala20747= | |
| XM_024453094.1:c.83736T>C (TTN) | XP_024308862.1:p.Ala27912= | |
| XM_024453095.1:c.83733T>C (TTN) | XP_024308863.1:p.Ala27911= | |
| XM_024453096.1:c.83166T>C (TTN) | XP_024308864.1:p.Ala27722= | |
| XM_024453097.1:c.80508T>C (TTN) | XP_024308865.1:p.Ala26836= | |
| XM_024453098.1:c.80427T>C (TTN) | XP_024308866.1:p.Ala26809= | |
| XM_024453099.1:c.62190T>C (TTN) | XP_024308867.1:p.Ala20730= | |
| XM_024453100.1:c.52044T>C (TTN) | XP_024308868.1:p.Ala17348= |