Linked Data
ClinVar Variation Id:
283721
dbSNP Id:
rs886042694
gnomAD v3:
2-178558378-T-C
gnomAD v4:
2-178558378-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178558378T>C , CM000664.2:g.178558378T>C | GRCh38 |
| NC_000002.11:g.179423105T>C , CM000664.1:g.179423105T>C | GRCh37 |
| NC_000002.10:g.179131351T>C | NCBI36 |
| NG_011618.3:g.277425A>G , LRG_391:g.277425A>G | |
| NG_051363.1:g.40552T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.79377A>G (TTN) | ENSP00000343764.6:p.Arg26459= | |
| ENST00000342175.11:c.60462A>G (TTN) | ENSP00000340554.6:p.Arg20154= | |
| ENST00000359218.10:c.60261A>G (TTN) | ENSP00000352154.5:p.Arg20087= | |
| ENST00000342175.10:c.60462A>G (TTN) | ENSP00000340554.6:p.Arg20154= | |
| ENST00000342992.10:c.79377A>G (TTN) | ENSP00000343764.6:p.Arg26459= | |
| ENST00000359218.9:c.60261A>G (TTN) | ENSP00000352154.5:p.Arg20087= | |
| ENST00000460472.6:c.59886A>G (TTN) | ENSP00000434586.1:p.Arg19962= | |
| ENST00000589042.5:c.87081A>G (TTN) MANE Select | ENSP00000467141.1:p.Arg29027= | |
| ENST00000591111.5:c.82158A>G (TTN) | ENSP00000465570.1:p.Arg27386= | |
| ENST00000615779.4:c.82158A>G (TTN) | ENSP00000483597.1:p.Arg27386= | |
| NM_001256850.1:c.82158A>G (TTN) | NP_001243779.1:p.Arg27386= | |
| NM_001267550.2:c.87081A>G (TTN) MANE Select | NP_001254479.2:p.Arg29027= | |
| NM_003319.4:c.59886A>G (TTN) | NP_003310.4:p.Arg19962= | |
| NM_133378.4:c.79377A>G (TTN) | NP_596869.4:p.Arg26459= | |
| NM_133432.3:c.60261A>G (TTN) | NP_597676.3:p.Arg20087= | |
| NM_133437.4:c.60462A>G (TTN) | NP_597681.4:p.Arg20154= | |
| NR_038271.1:n.447-12922T>C (TTN-AS1) | ||
| NR_038272.1:n.2043+16017T>C (TTN-AS1) | ||
| XM_011511729.1:c.86178A>G (TTN) | XP_011510031.1:p.Arg28726= | |
| XM_011511730.1:c.60072A>G (TTN) | XP_011510032.1:p.Arg20024= | |
| XM_011511731.1:c.59931A>G (TTN) | XP_011510033.1:p.Arg19977= | |
| XM_017004819.1:c.85974A>G (TTN) | XP_016860308.1:p.Arg28658= | |
| XM_017004820.1:c.81372A>G (TTN) | XP_016860309.1:p.Arg27124= | |
| XM_017004821.1:c.81369A>G (TTN) | XP_016860310.1:p.Arg27123= | |
| XM_017004822.1:c.78411A>G (TTN) | XP_016860311.1:p.Arg26137= | |
| XM_017004823.1:c.60027A>G (TTN) | XP_016860312.1:p.Arg20009= | |
| XM_024453094.1:c.81522A>G (TTN) | XP_024308862.1:p.Arg27174= | |
| XM_024453095.1:c.81519A>G (TTN) | XP_024308863.1:p.Arg27173= | |
| XM_024453096.1:c.80952A>G (TTN) | XP_024308864.1:p.Arg26984= | |
| XM_024453097.1:c.78294A>G (TTN) | XP_024308865.1:p.Arg26098= | |
| XM_024453098.1:c.78213A>G (TTN) | XP_024308866.1:p.Arg26071= | |
| XM_024453099.1:c.59976A>G (TTN) | XP_024308867.1:p.Arg19992= | |
| XM_024453100.1:c.49830A>G (TTN) | XP_024308868.1:p.Arg16610= |