Linked Data
ClinVar Variation Id:
404748
dbSNP Id:
rs1060500435
gnomAD v3:
2-178546612-G-A
gnomAD v4:
2-178546612-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178546612G>A , CM000664.2:g.178546612G>A | GRCh38 |
| NC_000002.11:g.179411339G>A , CM000664.1:g.179411339G>A | GRCh37 |
| NC_000002.10:g.179119585G>A | NCBI36 |
| NG_011618.3:g.289191C>T , LRG_391:g.289191C>T | |
| NG_051363.1:g.28786G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000342992.11:c.87112C>T (TTN) | ENSP00000343764.6:p.Arg29038Ter | |
| ENST00000342175.11:c.68197C>T (TTN) | ENSP00000340554.6:p.Arg22733Ter | |
| ENST00000359218.10:c.67996C>T (TTN) | ENSP00000352154.5:p.Arg22666Ter | |
| ENST00000342175.10:c.68197C>T (TTN) | ENSP00000340554.6:p.Arg22733Ter | |
| ENST00000342992.10:c.87112C>T (TTN) | ENSP00000343764.6:p.Arg29038Ter | |
| ENST00000359218.9:c.67996C>T (TTN) | ENSP00000352154.5:p.Arg22666Ter | |
| ENST00000460472.6:c.67621C>T (TTN) | ENSP00000434586.1:p.Arg22541Ter | |
| ENST00000589042.5:c.94816C>T (TTN) MANE Select | ENSP00000467141.1:p.Arg31606Ter | |
| ENST00000591111.5:c.89893C>T (TTN) | ENSP00000465570.1:p.Arg29965Ter | |
| ENST00000615779.4:c.89893C>T (TTN) | ENSP00000483597.1:p.Arg29965Ter | |
| NM_001256850.1:c.89893C>T (TTN) | NP_001243779.1:p.Arg29965Ter | |
| NM_001267550.2:c.94816C>T (TTN) MANE Select | NP_001254479.2:p.Arg31606Ter | |
| NM_003319.4:c.67621C>T (TTN) | NP_003310.4:p.Arg22541Ter | |
| NM_133378.4:c.87112C>T (TTN) | NP_596869.4:p.Arg29038Ter | |
| NM_133432.3:c.67996C>T (TTN) | NP_597676.3:p.Arg22666Ter | |
| NM_133437.4:c.68197C>T (TTN) | NP_597681.4:p.Arg22733Ter | |
| NR_038271.1:n.446+22976G>A (TTN-AS1) | ||
| NR_038272.1:n.2043+4251G>A (TTN-AS1) | ||
| XM_011511729.1:c.93913C>T (TTN) | XP_011510031.1:p.Arg31305Ter | |
| XM_011511730.1:c.67807C>T (TTN) | XP_011510032.1:p.Arg22603Ter | |
| XM_011511731.1:c.67666C>T (TTN) | XP_011510033.1:p.Arg22556Ter | |
| XM_017004819.1:c.93709C>T (TTN) | XP_016860308.1:p.Arg31237Ter | |
| XM_017004820.1:c.89107C>T (TTN) | XP_016860309.1:p.Arg29703Ter | |
| XM_017004821.1:c.89104C>T (TTN) | XP_016860310.1:p.Arg29702Ter | |
| XM_017004822.1:c.86146C>T (TTN) | XP_016860311.1:p.Arg28716Ter | |
| XM_017004823.1:c.67762C>T (TTN) | XP_016860312.1:p.Arg22588Ter | |
| XM_024453094.1:c.89257C>T (TTN) | XP_024308862.1:p.Arg29753Ter | |
| XM_024453095.1:c.89254C>T (TTN) | XP_024308863.1:p.Arg29752Ter | |
| XM_024453096.1:c.88687C>T (TTN) | XP_024308864.1:p.Arg29563Ter | |
| XM_024453097.1:c.86029C>T (TTN) | XP_024308865.1:p.Arg28677Ter | |
| XM_024453098.1:c.85948C>T (TTN) | XP_024308866.1:p.Arg28650Ter | |
| XM_024453099.1:c.67711C>T (TTN) | XP_024308867.1:p.Arg22571Ter | |
| XM_024453100.1:c.57565C>T (TTN) | XP_024308868.1:p.Arg19189Ter |