Linked Data
ClinVar Variation Id:
265825
dbSNP Id:
rs952475900
gnomAD v2:
2-179394815-A-T
gnomAD v4:
2-178530088-A-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178530088A>T , CM000664.2:g.178530088A>T | GRCh38 |
| NC_000002.11:g.179394815A>T , CM000664.1:g.179394815A>T | GRCh37 |
| NC_000002.10:g.179103061A>T | NCBI36 |
| NG_011618.3:g.305715T>A , LRG_391:g.305715T>A | |
| NG_051363.1:g.12262A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.98699T>A (TTN) | ENSP00000343764.6:p.Leu32900His | |
| ENST00000342175.11:c.79784T>A (TTN) | ENSP00000340554.6:p.Leu26595His | |
| ENST00000359218.10:c.79583T>A (TTN) | ENSP00000352154.5:p.Leu26528His | |
| ENST00000342175.10:c.79784T>A (TTN) | ENSP00000340554.6:p.Leu26595His | |
| ENST00000342992.10:c.98699T>A (TTN) | ENSP00000343764.6:p.Leu32900His | |
| ENST00000359218.9:c.79583T>A (TTN) | ENSP00000352154.5:p.Leu26528His | |
| ENST00000460472.6:c.79208T>A (TTN) | ENSP00000434586.1:p.Leu26403His | |
| ENST00000589042.5:c.106403T>A (TTN) MANE Select | ENSP00000467141.1:p.Leu35468His | |
| ENST00000591111.5:c.101480T>A (TTN) | ENSP00000465570.1:p.Leu33827His | |
| ENST00000615779.4:c.101480T>A (TTN) | ENSP00000483597.1:p.Leu33827His | |
| NM_001256850.1:c.101480T>A (TTN) | NP_001243779.1:p.Leu33827His | |
| NM_001267550.2:c.106403T>A (TTN) MANE Select | NP_001254479.2:p.Leu35468His | |
| NM_003319.4:c.79208T>A (TTN) | NP_003310.4:p.Leu26403His | |
| NM_133378.4:c.98699T>A (TTN) | NP_596869.4:p.Leu32900His | |
| NM_133432.3:c.79583T>A (TTN) | NP_597676.3:p.Leu26528His | |
| NM_133437.4:c.79784T>A (TTN) | NP_597681.4:p.Leu26595His | |
| NR_038271.1:n.446+6452A>T (TTN-AS1) | ||
| NR_038272.1:n.220-5644A>T (TTN-AS1) | ||
| XM_011511729.1:c.105500T>A (TTN) | XP_011510031.1:p.Leu35167His | |
| XM_011511730.1:c.79394T>A (TTN) | XP_011510032.1:p.Leu26465His | |
| XM_011511731.1:c.79253T>A (TTN) | XP_011510033.1:p.Leu26418His | |
| XM_017004819.1:c.105296T>A (TTN) | XP_016860308.1:p.Leu35099His | |
| XM_017004820.1:c.100694T>A (TTN) | XP_016860309.1:p.Leu33565His | |
| XM_017004821.1:c.100691T>A (TTN) | XP_016860310.1:p.Leu33564His | |
| XM_017004822.1:c.97733T>A (TTN) | XP_016860311.1:p.Leu32578His | |
| XM_017004823.1:c.79349T>A (TTN) | XP_016860312.1:p.Leu26450His | |
| XM_024453094.1:c.100844T>A (TTN) | XP_024308862.1:p.Leu33615His | |
| XM_024453095.1:c.100841T>A (TTN) | XP_024308863.1:p.Leu33614His | |
| XM_024453096.1:c.100274T>A (TTN) | XP_024308864.1:p.Leu33425His | |
| XM_024453097.1:c.97616T>A (TTN) | XP_024308865.1:p.Leu32539His | |
| XM_024453098.1:c.97535T>A (TTN) | XP_024308866.1:p.Leu32512His | |
| XM_024453099.1:c.79298T>A (TTN) | XP_024308867.1:p.Leu26433His | |
| XM_024453100.1:c.69152T>A (TTN) | XP_024308868.1:p.Leu23051His |