Linked Data
ClinVar Variation Id:
389761
dbSNP Id:
rs891629905
gnomAD v2:
2-179434485-T-A
gnomAD v3:
2-178569758-T-A
gnomAD v4:
2-178569758-T-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178569758T>A , CM000664.2:g.178569758T>A | GRCh38 |
| NC_000002.11:g.179434485T>A , CM000664.1:g.179434485T>A | GRCh37 |
| NC_000002.10:g.179142731T>A | NCBI36 |
| NG_011618.3:g.266045A>T , LRG_391:g.266045A>T | |
| NG_051363.1:g.51932T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.68670A>T (TTN) | ENSP00000343764.6:p.Pro22890= | |
| ENST00000342175.11:c.49755A>T (TTN) | ENSP00000340554.6:p.Pro16585= | |
| ENST00000359218.10:c.49554A>T (TTN) | ENSP00000352154.5:p.Pro16518= | |
| ENST00000342175.10:c.49755A>T (TTN) | ENSP00000340554.6:p.Pro16585= | |
| ENST00000342992.10:c.68670A>T (TTN) | ENSP00000343764.6:p.Pro22890= | |
| ENST00000359218.9:c.49554A>T (TTN) | ENSP00000352154.5:p.Pro16518= | |
| ENST00000460472.6:c.49179A>T (TTN) | ENSP00000434586.1:p.Pro16393= | |
| ENST00000589042.5:c.76374A>T (TTN) MANE Select | ENSP00000467141.1:p.Pro25458= | |
| ENST00000591111.5:c.71451A>T (TTN) | ENSP00000465570.1:p.Pro23817= | |
| ENST00000615779.4:c.71451A>T (TTN) | ENSP00000483597.1:p.Pro23817= | |
| NM_001256850.1:c.71451A>T (TTN) | NP_001243779.1:p.Pro23817= | |
| NM_001267550.2:c.76374A>T (TTN) MANE Select | NP_001254479.2:p.Pro25458= | |
| NM_003319.4:c.49179A>T (TTN) | NP_003310.4:p.Pro16393= | |
| NM_133378.4:c.68670A>T (TTN) | NP_596869.4:p.Pro22890= | |
| NM_133432.3:c.49554A>T (TTN) | NP_597676.3:p.Pro16518= | |
| NM_133437.4:c.49755A>T (TTN) | NP_597681.4:p.Pro16585= | |
| NR_038271.1:n.447-1542T>A (TTN-AS1) | ||
| NR_038272.1:n.2044-12814T>A (TTN-AS1) | ||
| XM_011511729.1:c.75471A>T (TTN) | XP_011510031.1:p.Pro25157= | |
| XM_011511730.1:c.49365A>T (TTN) | XP_011510032.1:p.Pro16455= | |
| XM_011511731.1:c.49224A>T (TTN) | XP_011510033.1:p.Pro16408= | |
| XM_017004819.1:c.75267A>T (TTN) | XP_016860308.1:p.Pro25089= | |
| XM_017004820.1:c.70665A>T (TTN) | XP_016860309.1:p.Pro23555= | |
| XM_017004821.1:c.70662A>T (TTN) | XP_016860310.1:p.Pro23554= | |
| XM_017004822.1:c.67704A>T (TTN) | XP_016860311.1:p.Pro22568= | |
| XM_017004823.1:c.49320A>T (TTN) | XP_016860312.1:p.Pro16440= | |
| XM_024453094.1:c.70815A>T (TTN) | XP_024308862.1:p.Pro23605= | |
| XM_024453095.1:c.70812A>T (TTN) | XP_024308863.1:p.Pro23604= | |
| XM_024453096.1:c.70245A>T (TTN) | XP_024308864.1:p.Pro23415= | |
| XM_024453097.1:c.67587A>T (TTN) | XP_024308865.1:p.Pro22529= | |
| XM_024453098.1:c.67506A>T (TTN) | XP_024308866.1:p.Pro22502= | |
| XM_024453099.1:c.49269A>T (TTN) | XP_024308867.1:p.Pro16423= | |
| XM_024453100.1:c.39123A>T (TTN) | XP_024308868.1:p.Pro13041= |