Linked Data
ClinVar Variation Id:
288511
dbSNP Id:
rs886043924
gnomAD v2:
2-179395588-G-A
gnomAD v3:
2-178530861-G-A
gnomAD v4:
2-178530861-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178530861G>A , CM000664.2:g.178530861G>A | GRCh38 |
| NC_000002.11:g.179395588G>A , CM000664.1:g.179395588G>A | GRCh37 |
| NC_000002.10:g.179103834G>A | NCBI36 |
| NG_011618.3:g.304942C>T , LRG_391:g.304942C>T | |
| NG_051363.1:g.13035G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.98050C>T (TTN) | ENSP00000343764.6:p.Arg32684Ter | |
| ENST00000342175.11:c.79135C>T (TTN) | ENSP00000340554.6:p.Arg26379Ter | |
| ENST00000359218.10:c.78934C>T (TTN) | ENSP00000352154.5:p.Arg26312Ter | |
| ENST00000342175.10:c.79135C>T (TTN) | ENSP00000340554.6:p.Arg26379Ter | |
| ENST00000342992.10:c.98050C>T (TTN) | ENSP00000343764.6:p.Arg32684Ter | |
| ENST00000359218.9:c.78934C>T (TTN) | ENSP00000352154.5:p.Arg26312Ter | |
| ENST00000460472.6:c.78559C>T (TTN) | ENSP00000434586.1:p.Arg26187Ter | |
| ENST00000589042.5:c.105754C>T (TTN) MANE Select | ENSP00000467141.1:p.Arg35252Ter | |
| ENST00000591111.5:c.100831C>T (TTN) | ENSP00000465570.1:p.Arg33611Ter | |
| ENST00000615779.4:c.100831C>T (TTN) | ENSP00000483597.1:p.Arg33611Ter | |
| NM_001256850.1:c.100831C>T (TTN) | NP_001243779.1:p.Arg33611Ter | |
| NM_001267550.2:c.105754C>T (TTN) MANE Select | NP_001254479.2:p.Arg35252Ter | |
| NM_003319.4:c.78559C>T (TTN) | NP_003310.4:p.Arg26187Ter | |
| NM_133378.4:c.98050C>T (TTN) | NP_596869.4:p.Arg32684Ter | |
| NM_133432.3:c.78934C>T (TTN) | NP_597676.3:p.Arg26312Ter | |
| NM_133437.4:c.79135C>T (TTN) | NP_597681.4:p.Arg26379Ter | |
| NR_038271.1:n.446+7225G>A (TTN-AS1) | ||
| NR_038272.1:n.220-4871G>A (TTN-AS1) | ||
| XM_011511729.1:c.104851C>T (TTN) | XP_011510031.1:p.Arg34951Ter | |
| XM_011511730.1:c.78745C>T (TTN) | XP_011510032.1:p.Arg26249Ter | |
| XM_011511731.1:c.78604C>T (TTN) | XP_011510033.1:p.Arg26202Ter | |
| XM_017004819.1:c.104647C>T (TTN) | XP_016860308.1:p.Arg34883Ter | |
| XM_017004820.1:c.100045C>T (TTN) | XP_016860309.1:p.Arg33349Ter | |
| XM_017004821.1:c.100042C>T (TTN) | XP_016860310.1:p.Arg33348Ter | |
| XM_017004822.1:c.97084C>T (TTN) | XP_016860311.1:p.Arg32362Ter | |
| XM_017004823.1:c.78700C>T (TTN) | XP_016860312.1:p.Arg26234Ter | |
| XM_024453094.1:c.100195C>T (TTN) | XP_024308862.1:p.Arg33399Ter | |
| XM_024453095.1:c.100192C>T (TTN) | XP_024308863.1:p.Arg33398Ter | |
| XM_024453096.1:c.99625C>T (TTN) | XP_024308864.1:p.Arg33209Ter | |
| XM_024453097.1:c.96967C>T (TTN) | XP_024308865.1:p.Arg32323Ter | |
| XM_024453098.1:c.96886C>T (TTN) | XP_024308866.1:p.Arg32296Ter | |
| XM_024453099.1:c.78649C>T (TTN) | XP_024308867.1:p.Arg26217Ter | |
| XM_024453100.1:c.68503C>T (TTN) | XP_024308868.1:p.Arg22835Ter |