Linked Data
ClinVar Variation Id:
404943
dbSNP Id:
rs769343491
ExAC:
2:179427842 G / T
gnomAD v2:
2-179427842-G-T
gnomAD v3:
2-178563115-G-T
gnomAD v4:
2-178563115-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178563115G>T , CM000664.2:g.178563115G>T | GRCh38 |
| NC_000002.11:g.179427842G>T , CM000664.1:g.179427842G>T | GRCh37 |
| NC_000002.10:g.179136088G>T | NCBI36 |
| NG_011618.3:g.272688C>A , LRG_391:g.272688C>A | |
| NG_051363.1:g.45289G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.75313C>A (TTN) | ENSP00000343764.6:p.Pro25105Thr | |
| ENST00000342175.11:c.56398C>A (TTN) | ENSP00000340554.6:p.Pro18800Thr | |
| ENST00000359218.10:c.56197C>A (TTN) | ENSP00000352154.5:p.Pro18733Thr | |
| ENST00000342175.10:c.56398C>A (TTN) | ENSP00000340554.6:p.Pro18800Thr | |
| ENST00000342992.10:c.75313C>A (TTN) | ENSP00000343764.6:p.Pro25105Thr | |
| ENST00000359218.9:c.56197C>A (TTN) | ENSP00000352154.5:p.Pro18733Thr | |
| ENST00000460472.6:c.55822C>A (TTN) | ENSP00000434586.1:p.Pro18608Thr | |
| ENST00000589042.5:c.83017C>A (TTN) MANE Select | ENSP00000467141.1:p.Pro27673Thr | |
| ENST00000591111.5:c.78094C>A (TTN) | ENSP00000465570.1:p.Pro26032Thr | |
| ENST00000615779.4:c.78094C>A (TTN) | ENSP00000483597.1:p.Pro26032Thr | |
| NM_001256850.1:c.78094C>A (TTN) | NP_001243779.1:p.Pro26032Thr | |
| NM_001267550.2:c.83017C>A (TTN) MANE Select | NP_001254479.2:p.Pro27673Thr | |
| NM_003319.4:c.55822C>A (TTN) | NP_003310.4:p.Pro18608Thr | |
| NM_133378.4:c.75313C>A (TTN) | NP_596869.4:p.Pro25105Thr | |
| NM_133432.3:c.56197C>A (TTN) | NP_597676.3:p.Pro18733Thr | |
| NM_133437.4:c.56398C>A (TTN) | NP_597681.4:p.Pro18800Thr | |
| NR_038271.1:n.447-8185G>T (TTN-AS1) | ||
| NR_038272.1:n.2044-19457G>T (TTN-AS1) | ||
| XM_011511729.1:c.82114C>A (TTN) | XP_011510031.1:p.Pro27372Thr | |
| XM_011511730.1:c.56008C>A (TTN) | XP_011510032.1:p.Pro18670Thr | |
| XM_011511731.1:c.55867C>A (TTN) | XP_011510033.1:p.Pro18623Thr | |
| XM_017004819.1:c.81910C>A (TTN) | XP_016860308.1:p.Pro27304Thr | |
| XM_017004820.1:c.77308C>A (TTN) | XP_016860309.1:p.Pro25770Thr | |
| XM_017004821.1:c.77305C>A (TTN) | XP_016860310.1:p.Pro25769Thr | |
| XM_017004822.1:c.74347C>A (TTN) | XP_016860311.1:p.Pro24783Thr | |
| XM_017004823.1:c.55963C>A (TTN) | XP_016860312.1:p.Pro18655Thr | |
| XM_024453094.1:c.77458C>A (TTN) | XP_024308862.1:p.Pro25820Thr | |
| XM_024453095.1:c.77455C>A (TTN) | XP_024308863.1:p.Pro25819Thr | |
| XM_024453096.1:c.76888C>A (TTN) | XP_024308864.1:p.Pro25630Thr | |
| XM_024453097.1:c.74230C>A (TTN) | XP_024308865.1:p.Pro24744Thr | |
| XM_024453098.1:c.74149C>A (TTN) | XP_024308866.1:p.Pro24717Thr | |
| XM_024453099.1:c.55912C>A (TTN) | XP_024308867.1:p.Pro18638Thr | |
| XM_024453100.1:c.45766C>A (TTN) | XP_024308868.1:p.Pro15256Thr |