Linked Data
ClinVar Variation Id:
179523
dbSNP Id:
rs727504923
ExAC:
2:179413171 C / T
gnomAD v2:
2-179413171-C-T
gnomAD v3:
2-178548444-C-T
gnomAD v4:
2-178548444-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178548444C>T , CM000664.2:g.178548444C>T | GRCh38 |
| NC_000002.11:g.179413171C>T , CM000664.1:g.179413171C>T | GRCh37 |
| NC_000002.10:g.179121417C>T | NCBI36 |
| NG_011618.3:g.287359G>A , LRG_391:g.287359G>A | |
| NG_051363.1:g.30618C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.85478G>A (TTN) | ENSP00000343764.6:p.Arg28493His | |
| ENST00000342175.11:c.66563G>A (TTN) | ENSP00000340554.6:p.Arg22188His | |
| ENST00000359218.10:c.66362G>A (TTN) | ENSP00000352154.5:p.Arg22121His | |
| ENST00000342175.10:c.66563G>A (TTN) | ENSP00000340554.6:p.Arg22188His | |
| ENST00000342992.10:c.85478G>A (TTN) | ENSP00000343764.6:p.Arg28493His | |
| ENST00000359218.9:c.66362G>A (TTN) | ENSP00000352154.5:p.Arg22121His | |
| ENST00000460472.6:c.65987G>A (TTN) | ENSP00000434586.1:p.Arg21996His | |
| ENST00000589042.5:c.93182G>A (TTN) MANE Select | ENSP00000467141.1:p.Arg31061His | |
| ENST00000591111.5:c.88259G>A (TTN) | ENSP00000465570.1:p.Arg29420His | |
| ENST00000615779.4:c.88259G>A (TTN) | ENSP00000483597.1:p.Arg29420His | |
| NM_001256850.1:c.88259G>A (TTN) | NP_001243779.1:p.Arg29420His | |
| NM_001267550.2:c.93182G>A (TTN) MANE Select | NP_001254479.2:p.Arg31061His | |
| NM_003319.4:c.65987G>A (TTN) | NP_003310.4:p.Arg21996His | |
| NM_133378.4:c.85478G>A (TTN) | NP_596869.4:p.Arg28493His | |
| NM_133432.3:c.66362G>A (TTN) | NP_597676.3:p.Arg22121His | |
| NM_133437.4:c.66563G>A (TTN) | NP_597681.4:p.Arg22188His | |
| NR_038271.1:n.447-22856C>T (TTN-AS1) | ||
| NR_038272.1:n.2043+6083C>T (TTN-AS1) | ||
| XM_011511729.1:c.92279G>A (TTN) | XP_011510031.1:p.Arg30760His | |
| XM_011511730.1:c.66173G>A (TTN) | XP_011510032.1:p.Arg22058His | |
| XM_011511731.1:c.66032G>A (TTN) | XP_011510033.1:p.Arg22011His | |
| XM_017004819.1:c.92075G>A (TTN) | XP_016860308.1:p.Arg30692His | |
| XM_017004820.1:c.87473G>A (TTN) | XP_016860309.1:p.Arg29158His | |
| XM_017004821.1:c.87470G>A (TTN) | XP_016860310.1:p.Arg29157His | |
| XM_017004822.1:c.84512G>A (TTN) | XP_016860311.1:p.Arg28171His | |
| XM_017004823.1:c.66128G>A (TTN) | XP_016860312.1:p.Arg22043His | |
| XM_024453094.1:c.87623G>A (TTN) | XP_024308862.1:p.Arg29208His | |
| XM_024453095.1:c.87620G>A (TTN) | XP_024308863.1:p.Arg29207His | |
| XM_024453096.1:c.87053G>A (TTN) | XP_024308864.1:p.Arg29018His | |
| XM_024453097.1:c.84395G>A (TTN) | XP_024308865.1:p.Arg28132His | |
| XM_024453098.1:c.84314G>A (TTN) | XP_024308866.1:p.Arg28105His | |
| XM_024453099.1:c.66077G>A (TTN) | XP_024308867.1:p.Arg22026His | |
| XM_024453100.1:c.55931G>A (TTN) | XP_024308868.1:p.Arg18644His |