Linked Data
ClinVar Variation Id:
165992
dbSNP Id:
rs549478203
ExAC:
2:179472403 G / A
gnomAD v2:
2-179472403-G-A
gnomAD v3:
2-178607676-G-A
gnomAD v4:
2-178607676-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178607676G>A , CM000664.2:g.178607676G>A | GRCh38 |
| NC_000002.11:g.179472403G>A , CM000664.1:g.179472403G>A | GRCh37 |
| NC_000002.10:g.179180648G>A | NCBI36 |
| NG_011618.3:g.228127C>T , LRG_391:g.228127C>T | |
| NG_051363.1:g.89850G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.45308C>T (TTN) | ENSP00000343764.6:p.Ala15103Val | |
| ENST00000342175.11:c.26393C>T (TTN) | ENSP00000340554.6:p.Ala8798Val | |
| ENST00000359218.10:c.26192C>T (TTN) | ENSP00000352154.5:p.Ala8731Val | |
| ENST00000342175.10:c.26393C>T (TTN) | ENSP00000340554.6:p.Ala8798Val | |
| ENST00000342992.10:c.45308C>T (TTN) | ENSP00000343764.6:p.Ala15103Val | |
| ENST00000359218.9:c.26192C>T (TTN) | ENSP00000352154.5:p.Ala8731Val | |
| ENST00000460472.6:c.25817C>T (TTN) | ENSP00000434586.1:p.Ala8606Val | |
| ENST00000589042.5:c.53012C>T (TTN) MANE Select | ENSP00000467141.1:p.Ala17671Val | |
| ENST00000591111.5:c.48089C>T (TTN) | ENSP00000465570.1:p.Ala16030Val | |
| ENST00000615779.4:c.48089C>T (TTN) | ENSP00000483597.1:p.Ala16030Val | |
| NM_001256850.1:c.48089C>T (TTN) | NP_001243779.1:p.Ala16030Val | |
| NM_001267550.2:c.53012C>T (TTN) MANE Select | NP_001254479.2:p.Ala17671Val | |
| NM_003319.4:c.25817C>T (TTN) | NP_003310.4:p.Ala8606Val | |
| NM_133378.4:c.45308C>T (TTN) | NP_596869.4:p.Ala15103Val | |
| NM_133432.3:c.26192C>T (TTN) | NP_597676.3:p.Ala8731Val | |
| NM_133437.4:c.26393C>T (TTN) | NP_597681.4:p.Ala8798Val | |
| NR_038271.1:n.683-491G>A (TTN-AS1) | ||
| XM_011511729.1:c.52109C>T (TTN) | XP_011510031.1:p.Ala17370Val | |
| XM_011511730.1:c.26003C>T (TTN) | XP_011510032.1:p.Ala8668Val | |
| XM_011511731.1:c.25862C>T (TTN) | XP_011510033.1:p.Ala8621Val | |
| XM_017004819.1:c.51905C>T (TTN) | XP_016860308.1:p.Ala17302Val | |
| XM_017004820.1:c.47303C>T (TTN) | XP_016860309.1:p.Ala15768Val | |
| XM_017004821.1:c.47300C>T (TTN) | XP_016860310.1:p.Ala15767Val | |
| XM_017004822.1:c.44342C>T (TTN) | XP_016860311.1:p.Ala14781Val | |
| XM_017004823.1:c.25958C>T (TTN) | XP_016860312.1:p.Ala8653Val | |
| XM_024453094.1:c.47453C>T (TTN) | XP_024308862.1:p.Ala15818Val | |
| XM_024453095.1:c.47450C>T (TTN) | XP_024308863.1:p.Ala15817Val | |
| XM_024453096.1:c.46883C>T (TTN) | XP_024308864.1:p.Ala15628Val | |
| XM_024453097.1:c.44225C>T (TTN) | XP_024308865.1:p.Ala14742Val | |
| XM_024453098.1:c.44144C>T (TTN) | XP_024308866.1:p.Ala14715Val | |
| XM_024453099.1:c.25907C>T (TTN) | XP_024308867.1:p.Ala8636Val | |
| XM_024453100.1:c.15761C>T (TTN) | XP_024308868.1:p.Ala5254Val |