Linked Data
ClinVar Variation Id:
223259
dbSNP Id:
rs79926414
gnomAD v4:
2-178565497-G-A
PubMed:
PMID:25589632
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178565497G>A , CM000664.2:g.178565497G>A | GRCh38 |
| NC_000002.11:g.179430224G>A , CM000664.1:g.179430224G>A | GRCh37 |
| NC_000002.10:g.179138470G>A | NCBI36 |
| NG_011618.3:g.270306C>T , LRG_391:g.270306C>T | |
| NG_051363.1:g.47671G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.72931C>T (TTN) | ENSP00000343764.6:p.Gln24311Ter | |
| ENST00000342175.11:c.54016C>T (TTN) | ENSP00000340554.6:p.Gln18006Ter | |
| ENST00000359218.10:c.53815C>T (TTN) | ENSP00000352154.5:p.Gln17939Ter | |
| ENST00000342175.10:c.54016C>T (TTN) | ENSP00000340554.6:p.Gln18006Ter | |
| ENST00000342992.10:c.72931C>T (TTN) | ENSP00000343764.6:p.Gln24311Ter | |
| ENST00000359218.9:c.53815C>T (TTN) | ENSP00000352154.5:p.Gln17939Ter | |
| ENST00000460472.6:c.53440C>T (TTN) | ENSP00000434586.1:p.Gln17814Ter | |
| ENST00000589042.5:c.80635C>T (TTN) MANE Select | ENSP00000467141.1:p.Gln26879Ter | |
| ENST00000591111.5:c.75712C>T (TTN) | ENSP00000465570.1:p.Gln25238Ter | |
| ENST00000615779.4:c.75712C>T (TTN) | ENSP00000483597.1:p.Gln25238Ter | |
| NM_001256850.1:c.75712C>T (TTN) | NP_001243779.1:p.Gln25238Ter | |
| NM_001267550.2:c.80635C>T (TTN) MANE Select | NP_001254479.2:p.Gln26879Ter | |
| NM_003319.4:c.53440C>T (TTN) | NP_003310.4:p.Gln17814Ter | |
| NM_133378.4:c.72931C>T (TTN) | NP_596869.4:p.Gln24311Ter | |
| NM_133432.3:c.53815C>T (TTN) | NP_597676.3:p.Gln17939Ter | |
| NM_133437.4:c.54016C>T (TTN) | NP_597681.4:p.Gln18006Ter | |
| NR_038271.1:n.447-5803G>A (TTN-AS1) | ||
| NR_038272.1:n.2044-17075G>A (TTN-AS1) | ||
| XM_011511729.1:c.79732C>T (TTN) | XP_011510031.1:p.Gln26578Ter | |
| XM_011511730.1:c.53626C>T (TTN) | XP_011510032.1:p.Gln17876Ter | |
| XM_011511731.1:c.53485C>T (TTN) | XP_011510033.1:p.Gln17829Ter | |
| XM_017004819.1:c.79528C>T (TTN) | XP_016860308.1:p.Gln26510Ter | |
| XM_017004820.1:c.74926C>T (TTN) | XP_016860309.1:p.Gln24976Ter | |
| XM_017004821.1:c.74923C>T (TTN) | XP_016860310.1:p.Gln24975Ter | |
| XM_017004822.1:c.71965C>T (TTN) | XP_016860311.1:p.Gln23989Ter | |
| XM_017004823.1:c.53581C>T (TTN) | XP_016860312.1:p.Gln17861Ter | |
| XM_024453094.1:c.75076C>T (TTN) | XP_024308862.1:p.Gln25026Ter | |
| XM_024453095.1:c.75073C>T (TTN) | XP_024308863.1:p.Gln25025Ter | |
| XM_024453096.1:c.74506C>T (TTN) | XP_024308864.1:p.Gln24836Ter | |
| XM_024453097.1:c.71848C>T (TTN) | XP_024308865.1:p.Gln23950Ter | |
| XM_024453098.1:c.71767C>T (TTN) | XP_024308866.1:p.Gln23923Ter | |
| XM_024453099.1:c.53530C>T (TTN) | XP_024308867.1:p.Gln17844Ter | |
| XM_024453100.1:c.43384C>T (TTN) | XP_024308868.1:p.Gln14462Ter |