Linked Data
ClinVar Variation Id:
47196
dbSNP Id:
rs200261892
ExAC:
2:179452478 C / T
gnomAD v2:
2-179452478-C-T
gnomAD v3:
2-178587751-C-T
gnomAD v4:
2-178587751-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178587751C>T , CM000664.2:g.178587751C>T | GRCh38 |
| NC_000002.11:g.179452478C>T , CM000664.1:g.179452478C>T | GRCh37 |
| NC_000002.10:g.179160724C>T | NCBI36 |
| NG_011618.3:g.248052G>A , LRG_391:g.248052G>A | |
| NG_051363.1:g.69925C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.55854G>A (TTN) | ENSP00000343764.6:p.Val18618= | |
| ENST00000342175.11:c.36939G>A (TTN) | ENSP00000340554.6:p.Val12313= | |
| ENST00000359218.10:c.36738G>A (TTN) | ENSP00000352154.5:p.Val12246= | |
| ENST00000342175.10:c.36939G>A (TTN) | ENSP00000340554.6:p.Val12313= | |
| ENST00000342992.10:c.55854G>A (TTN) | ENSP00000343764.6:p.Val18618= | |
| ENST00000359218.9:c.36738G>A (TTN) | ENSP00000352154.5:p.Val12246= | |
| ENST00000460472.6:c.36363G>A (TTN) | ENSP00000434586.1:p.Val12121= | |
| ENST00000589042.5:c.63558G>A (TTN) MANE Select | ENSP00000467141.1:p.Val21186= | |
| ENST00000591111.5:c.58635G>A (TTN) | ENSP00000465570.1:p.Val19545= | |
| ENST00000615779.4:c.58635G>A (TTN) | ENSP00000483597.1:p.Val19545= | |
| NM_001256850.1:c.58635G>A (TTN) | NP_001243779.1:p.Val19545= | |
| NM_001267550.2:c.63558G>A (TTN) MANE Select | NP_001254479.2:p.Val21186= | |
| NM_003319.4:c.36363G>A (TTN) | NP_003310.4:p.Val12121= | |
| NM_133378.4:c.55854G>A (TTN) | NP_596869.4:p.Val18618= | |
| NM_133432.3:c.36738G>A (TTN) | NP_597676.3:p.Val12246= | |
| NM_133437.4:c.36939G>A (TTN) | NP_597681.4:p.Val12313= | |
| NR_038271.1:n.597-9845C>T (TTN-AS1) | ||
| NR_038272.1:n.3188+2758C>T (TTN-AS1) | ||
| XM_011511729.1:c.62655G>A (TTN) | XP_011510031.1:p.Val20885= | |
| XM_011511730.1:c.36549G>A (TTN) | XP_011510032.1:p.Val12183= | |
| XM_011511731.1:c.36408G>A (TTN) | XP_011510033.1:p.Val12136= | |
| XM_017004819.1:c.62451G>A (TTN) | XP_016860308.1:p.Val20817= | |
| XM_017004820.1:c.57849G>A (TTN) | XP_016860309.1:p.Val19283= | |
| XM_017004821.1:c.57846G>A (TTN) | XP_016860310.1:p.Val19282= | |
| XM_017004822.1:c.54888G>A (TTN) | XP_016860311.1:p.Val18296= | |
| XM_017004823.1:c.36504G>A (TTN) | XP_016860312.1:p.Val12168= | |
| XM_024453094.1:c.57999G>A (TTN) | XP_024308862.1:p.Val19333= | |
| XM_024453095.1:c.57996G>A (TTN) | XP_024308863.1:p.Val19332= | |
| XM_024453096.1:c.57429G>A (TTN) | XP_024308864.1:p.Val19143= | |
| XM_024453097.1:c.54771G>A (TTN) | XP_024308865.1:p.Val18257= | |
| XM_024453098.1:c.54690G>A (TTN) | XP_024308866.1:p.Val18230= | |
| XM_024453099.1:c.36453G>A (TTN) | XP_024308867.1:p.Val12151= | |
| XM_024453100.1:c.26307G>A (TTN) | XP_024308868.1:p.Val8769= |