Linked Data
ClinVar Variation Id:
404810
dbSNP Id:
rs563887822
ExAC:
2:179412629 G / A
gnomAD v2:
2-179412629-G-A
gnomAD v3:
2-178547902-G-A
gnomAD v4:
2-178547902-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178547902G>A , CM000664.2:g.178547902G>A | GRCh38 |
| NC_000002.11:g.179412629G>A , CM000664.1:g.179412629G>A | GRCh37 |
| NC_000002.10:g.179120875G>A | NCBI36 |
| NG_011618.3:g.287901C>T , LRG_391:g.287901C>T | |
| NG_051363.1:g.30076G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.86020C>T (TTN) | ENSP00000343764.6:p.Arg28674Cys | |
| ENST00000342175.11:c.67105C>T (TTN) | ENSP00000340554.6:p.Arg22369Cys | |
| ENST00000359218.10:c.66904C>T (TTN) | ENSP00000352154.5:p.Arg22302Cys | |
| ENST00000342175.10:c.67105C>T (TTN) | ENSP00000340554.6:p.Arg22369Cys | |
| ENST00000342992.10:c.86020C>T (TTN) | ENSP00000343764.6:p.Arg28674Cys | |
| ENST00000359218.9:c.66904C>T (TTN) | ENSP00000352154.5:p.Arg22302Cys | |
| ENST00000460472.6:c.66529C>T (TTN) | ENSP00000434586.1:p.Arg22177Cys | |
| ENST00000589042.5:c.93724C>T (TTN) MANE Select | ENSP00000467141.1:p.Arg31242Cys | |
| ENST00000591111.5:c.88801C>T (TTN) | ENSP00000465570.1:p.Arg29601Cys | |
| ENST00000615779.4:c.88801C>T (TTN) | ENSP00000483597.1:p.Arg29601Cys | |
| NM_001256850.1:c.88801C>T (TTN) | NP_001243779.1:p.Arg29601Cys | |
| NM_001267550.2:c.93724C>T (TTN) MANE Select | NP_001254479.2:p.Arg31242Cys | |
| NM_003319.4:c.66529C>T (TTN) | NP_003310.4:p.Arg22177Cys | |
| NM_133378.4:c.86020C>T (TTN) | NP_596869.4:p.Arg28674Cys | |
| NM_133432.3:c.66904C>T (TTN) | NP_597676.3:p.Arg22302Cys | |
| NM_133437.4:c.67105C>T (TTN) | NP_597681.4:p.Arg22369Cys | |
| NR_038271.1:n.447-23398G>A (TTN-AS1) | ||
| NR_038272.1:n.2043+5541G>A (TTN-AS1) | ||
| XM_011511729.1:c.92821C>T (TTN) | XP_011510031.1:p.Arg30941Cys | |
| XM_011511730.1:c.66715C>T (TTN) | XP_011510032.1:p.Arg22239Cys | |
| XM_011511731.1:c.66574C>T (TTN) | XP_011510033.1:p.Arg22192Cys | |
| XM_017004819.1:c.92617C>T (TTN) | XP_016860308.1:p.Arg30873Cys | |
| XM_017004820.1:c.88015C>T (TTN) | XP_016860309.1:p.Arg29339Cys | |
| XM_017004821.1:c.88012C>T (TTN) | XP_016860310.1:p.Arg29338Cys | |
| XM_017004822.1:c.85054C>T (TTN) | XP_016860311.1:p.Arg28352Cys | |
| XM_017004823.1:c.66670C>T (TTN) | XP_016860312.1:p.Arg22224Cys | |
| XM_024453094.1:c.88165C>T (TTN) | XP_024308862.1:p.Arg29389Cys | |
| XM_024453095.1:c.88162C>T (TTN) | XP_024308863.1:p.Arg29388Cys | |
| XM_024453096.1:c.87595C>T (TTN) | XP_024308864.1:p.Arg29199Cys | |
| XM_024453097.1:c.84937C>T (TTN) | XP_024308865.1:p.Arg28313Cys | |
| XM_024453098.1:c.84856C>T (TTN) | XP_024308866.1:p.Arg28286Cys | |
| XM_024453099.1:c.66619C>T (TTN) | XP_024308867.1:p.Arg22207Cys | |
| XM_024453100.1:c.56473C>T (TTN) | XP_024308868.1:p.Arg18825Cys |