Linked Data
ClinVar Variation Id:
47528
dbSNP Id:
rs397517756
ExAC:
2:179413571 C / G
gnomAD v2:
2-179413571-C-G
gnomAD v3:
2-178548844-C-G
gnomAD v4:
2-178548844-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178548844C>G , CM000664.2:g.178548844C>G | GRCh38 |
| NC_000002.11:g.179413571C>G , CM000664.1:g.179413571C>G | GRCh37 |
| NC_000002.10:g.179121817C>G | NCBI36 |
| NG_011618.3:g.286959G>C , LRG_391:g.286959G>C | |
| NG_051363.1:g.31018C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.85078G>C (TTN) | ENSP00000343764.6:p.Asp28360His | |
| ENST00000342175.11:c.66163G>C (TTN) | ENSP00000340554.6:p.Asp22055His | |
| ENST00000359218.10:c.65962G>C (TTN) | ENSP00000352154.5:p.Asp21988His | |
| ENST00000342175.10:c.66163G>C (TTN) | ENSP00000340554.6:p.Asp22055His | |
| ENST00000342992.10:c.85078G>C (TTN) | ENSP00000343764.6:p.Asp28360His | |
| ENST00000359218.9:c.65962G>C (TTN) | ENSP00000352154.5:p.Asp21988His | |
| ENST00000460472.6:c.65587G>C (TTN) | ENSP00000434586.1:p.Asp21863His | |
| ENST00000589042.5:c.92782G>C (TTN) MANE Select | ENSP00000467141.1:p.Asp30928His | |
| ENST00000591111.5:c.87859G>C (TTN) | ENSP00000465570.1:p.Asp29287His | |
| ENST00000615779.4:c.87859G>C (TTN) | ENSP00000483597.1:p.Asp29287His | |
| NM_001256850.1:c.87859G>C (TTN) | NP_001243779.1:p.Asp29287His | |
| NM_001267550.2:c.92782G>C (TTN) MANE Select | NP_001254479.2:p.Asp30928His | |
| NM_003319.4:c.65587G>C (TTN) | NP_003310.4:p.Asp21863His | |
| NM_133378.4:c.85078G>C (TTN) | NP_596869.4:p.Asp28360His | |
| NM_133432.3:c.65962G>C (TTN) | NP_597676.3:p.Asp21988His | |
| NM_133437.4:c.66163G>C (TTN) | NP_597681.4:p.Asp22055His | |
| NR_038271.1:n.447-22456C>G (TTN-AS1) | ||
| NR_038272.1:n.2043+6483C>G (TTN-AS1) | ||
| XM_011511729.1:c.91879G>C (TTN) | XP_011510031.1:p.Asp30627His | |
| XM_011511730.1:c.65773G>C (TTN) | XP_011510032.1:p.Asp21925His | |
| XM_011511731.1:c.65632G>C (TTN) | XP_011510033.1:p.Asp21878His | |
| XM_017004819.1:c.91675G>C (TTN) | XP_016860308.1:p.Asp30559His | |
| XM_017004820.1:c.87073G>C (TTN) | XP_016860309.1:p.Asp29025His | |
| XM_017004821.1:c.87070G>C (TTN) | XP_016860310.1:p.Asp29024His | |
| XM_017004822.1:c.84112G>C (TTN) | XP_016860311.1:p.Asp28038His | |
| XM_017004823.1:c.65728G>C (TTN) | XP_016860312.1:p.Asp21910His | |
| XM_024453094.1:c.87223G>C (TTN) | XP_024308862.1:p.Asp29075His | |
| XM_024453095.1:c.87220G>C (TTN) | XP_024308863.1:p.Asp29074His | |
| XM_024453096.1:c.86653G>C (TTN) | XP_024308864.1:p.Asp28885His | |
| XM_024453097.1:c.83995G>C (TTN) | XP_024308865.1:p.Asp27999His | |
| XM_024453098.1:c.83914G>C (TTN) | XP_024308866.1:p.Asp27972His | |
| XM_024453099.1:c.65677G>C (TTN) | XP_024308867.1:p.Asp21893His | |
| XM_024453100.1:c.55531G>C (TTN) | XP_024308868.1:p.Asp18511His |