Linked Data
ClinVar Variation Id:
467495
dbSNP Id:
rs374913031
ExAC:
2:179434057 G / A
gnomAD v2:
2-179434057-G-A
gnomAD v3:
2-178569330-G-A
gnomAD v4:
2-178569330-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178569330G>A , CM000664.2:g.178569330G>A | GRCh38 |
| NC_000002.11:g.179434057G>A , CM000664.1:g.179434057G>A | GRCh37 |
| NC_000002.10:g.179142303G>A | NCBI36 |
| NG_011618.3:g.266473C>T , LRG_391:g.266473C>T | |
| NG_051363.1:g.51504G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.69098C>T (TTN) | ENSP00000343764.6:p.Thr23033Met | |
| ENST00000342175.11:c.50183C>T (TTN) | ENSP00000340554.6:p.Thr16728Met | |
| ENST00000359218.10:c.49982C>T (TTN) | ENSP00000352154.5:p.Thr16661Met | |
| ENST00000342175.10:c.50183C>T (TTN) | ENSP00000340554.6:p.Thr16728Met | |
| ENST00000342992.10:c.69098C>T (TTN) | ENSP00000343764.6:p.Thr23033Met | |
| ENST00000359218.9:c.49982C>T (TTN) | ENSP00000352154.5:p.Thr16661Met | |
| ENST00000460472.6:c.49607C>T (TTN) | ENSP00000434586.1:p.Thr16536Met | |
| ENST00000589042.5:c.76802C>T (TTN) MANE Select | ENSP00000467141.1:p.Thr25601Met | |
| ENST00000591111.5:c.71879C>T (TTN) | ENSP00000465570.1:p.Thr23960Met | |
| ENST00000615779.4:c.71879C>T (TTN) | ENSP00000483597.1:p.Thr23960Met | |
| NM_001256850.1:c.71879C>T (TTN) | NP_001243779.1:p.Thr23960Met | |
| NM_001267550.2:c.76802C>T (TTN) MANE Select | NP_001254479.2:p.Thr25601Met | |
| NM_003319.4:c.49607C>T (TTN) | NP_003310.4:p.Thr16536Met | |
| NM_133378.4:c.69098C>T (TTN) | NP_596869.4:p.Thr23033Met | |
| NM_133432.3:c.49982C>T (TTN) | NP_597676.3:p.Thr16661Met | |
| NM_133437.4:c.50183C>T (TTN) | NP_597681.4:p.Thr16728Met | |
| NR_038271.1:n.447-1970G>A (TTN-AS1) | ||
| NR_038272.1:n.2044-13242G>A (TTN-AS1) | ||
| XM_011511729.1:c.75899C>T (TTN) | XP_011510031.1:p.Thr25300Met | |
| XM_011511730.1:c.49793C>T (TTN) | XP_011510032.1:p.Thr16598Met | |
| XM_011511731.1:c.49652C>T (TTN) | XP_011510033.1:p.Thr16551Met | |
| XM_017004819.1:c.75695C>T (TTN) | XP_016860308.1:p.Thr25232Met | |
| XM_017004820.1:c.71093C>T (TTN) | XP_016860309.1:p.Thr23698Met | |
| XM_017004821.1:c.71090C>T (TTN) | XP_016860310.1:p.Thr23697Met | |
| XM_017004822.1:c.68132C>T (TTN) | XP_016860311.1:p.Thr22711Met | |
| XM_017004823.1:c.49748C>T (TTN) | XP_016860312.1:p.Thr16583Met | |
| XM_024453094.1:c.71243C>T (TTN) | XP_024308862.1:p.Thr23748Met | |
| XM_024453095.1:c.71240C>T (TTN) | XP_024308863.1:p.Thr23747Met | |
| XM_024453096.1:c.70673C>T (TTN) | XP_024308864.1:p.Thr23558Met | |
| XM_024453097.1:c.68015C>T (TTN) | XP_024308865.1:p.Thr22672Met | |
| XM_024453098.1:c.67934C>T (TTN) | XP_024308866.1:p.Thr22645Met | |
| XM_024453099.1:c.49697C>T (TTN) | XP_024308867.1:p.Thr16566Met | |
| XM_024453100.1:c.39551C>T (TTN) | XP_024308868.1:p.Thr13184Met |