Linked Data
ClinVar Variation Id:
2437889
ClinVar RCV Id:
RCV003137055
dbSNP Id:
rs757184326
ExAC:
2:179401794 C / T
gnomAD v2:
2-179401794-C-T
gnomAD v4:
2-178537067-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178537067C>T , CM000664.2:g.178537067C>T | GRCh38 |
| NC_000002.11:g.179401794C>T , CM000664.1:g.179401794C>T | GRCh37 |
| NC_000002.10:g.179110040C>T | NCBI36 |
| NG_011618.3:g.298736G>A , LRG_391:g.298736G>A | |
| NG_051363.1:g.19241C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.92338G>A (TTN) | ENSP00000343764.6:p.Val30780Met | |
| ENST00000342175.11:c.73423G>A (TTN) | ENSP00000340554.6:p.Val24475Met | |
| ENST00000359218.10:c.73222G>A (TTN) | ENSP00000352154.5:p.Val24408Met | |
| ENST00000342175.10:c.73423G>A (TTN) | ENSP00000340554.6:p.Val24475Met | |
| ENST00000342992.10:c.92338G>A (TTN) | ENSP00000343764.6:p.Val30780Met | |
| ENST00000359218.9:c.73222G>A (TTN) | ENSP00000352154.5:p.Val24408Met | |
| ENST00000460472.6:c.72847G>A (TTN) | ENSP00000434586.1:p.Val24283Met | |
| ENST00000589042.5:c.100042G>A (TTN) MANE Select | ENSP00000467141.1:p.Val33348Met | |
| ENST00000591111.5:c.95119G>A (TTN) | ENSP00000465570.1:p.Val31707Met | |
| ENST00000615779.4:c.95119G>A (TTN) | ENSP00000483597.1:p.Val31707Met | |
| NM_001256850.1:c.95119G>A (TTN) | NP_001243779.1:p.Val31707Met | |
| NM_001267550.2:c.100042G>A (TTN) MANE Select | NP_001254479.2:p.Val33348Met | |
| NM_003319.4:c.72847G>A (TTN) | NP_003310.4:p.Val24283Met | |
| NM_133378.4:c.92338G>A (TTN) | NP_596869.4:p.Val30780Met | |
| NM_133432.3:c.73222G>A (TTN) | NP_597676.3:p.Val24408Met | |
| NM_133437.4:c.73423G>A (TTN) | NP_597681.4:p.Val24475Met | |
| NR_038271.1:n.446+13431C>T (TTN-AS1) | ||
| NR_038272.1:n.317-294C>T (TTN-AS1) | ||
| XM_011511729.1:c.99139G>A (TTN) | XP_011510031.1:p.Val33047Met | |
| XM_011511730.1:c.73033G>A (TTN) | XP_011510032.1:p.Val24345Met | |
| XM_011511731.1:c.72892G>A (TTN) | XP_011510033.1:p.Val24298Met | |
| XM_017004819.1:c.98935G>A (TTN) | XP_016860308.1:p.Val32979Met | |
| XM_017004820.1:c.94333G>A (TTN) | XP_016860309.1:p.Val31445Met | |
| XM_017004821.1:c.94330G>A (TTN) | XP_016860310.1:p.Val31444Met | |
| XM_017004822.1:c.91372G>A (TTN) | XP_016860311.1:p.Val30458Met | |
| XM_017004823.1:c.72988G>A (TTN) | XP_016860312.1:p.Val24330Met | |
| XM_024453094.1:c.94483G>A (TTN) | XP_024308862.1:p.Val31495Met | |
| XM_024453095.1:c.94480G>A (TTN) | XP_024308863.1:p.Val31494Met | |
| XM_024453096.1:c.93913G>A (TTN) | XP_024308864.1:p.Val31305Met | |
| XM_024453097.1:c.91255G>A (TTN) | XP_024308865.1:p.Val30419Met | |
| XM_024453098.1:c.91174G>A (TTN) | XP_024308866.1:p.Val30392Met | |
| XM_024453099.1:c.72937G>A (TTN) | XP_024308867.1:p.Val24313Met | |
| XM_024453100.1:c.62791G>A (TTN) | XP_024308868.1:p.Val20931Met |