Linked Data
ClinVar Variation Id:
413225
dbSNP Id:
rs771257647
ExAC:
2:179430000 C / T
gnomAD v2:
2-179430000-C-T
gnomAD v3:
2-178565273-C-T
gnomAD v4:
2-178565273-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178565273C>T , CM000664.2:g.178565273C>T | GRCh38 |
| NC_000002.11:g.179430000C>T , CM000664.1:g.179430000C>T | GRCh37 |
| NC_000002.10:g.179138246C>T | NCBI36 |
| NG_011618.3:g.270530G>A , LRG_391:g.270530G>A | |
| NG_051363.1:g.47447C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.73155G>A (TTN) | ENSP00000343764.6:p.Thr24385= | |
| ENST00000342175.11:c.54240G>A (TTN) | ENSP00000340554.6:p.Thr18080= | |
| ENST00000359218.10:c.54039G>A (TTN) | ENSP00000352154.5:p.Thr18013= | |
| ENST00000342175.10:c.54240G>A (TTN) | ENSP00000340554.6:p.Thr18080= | |
| ENST00000342992.10:c.73155G>A (TTN) | ENSP00000343764.6:p.Thr24385= | |
| ENST00000359218.9:c.54039G>A (TTN) | ENSP00000352154.5:p.Thr18013= | |
| ENST00000460472.6:c.53664G>A (TTN) | ENSP00000434586.1:p.Thr17888= | |
| ENST00000589042.5:c.80859G>A (TTN) MANE Select | ENSP00000467141.1:p.Thr26953= | |
| ENST00000591111.5:c.75936G>A (TTN) | ENSP00000465570.1:p.Thr25312= | |
| ENST00000615779.4:c.75936G>A (TTN) | ENSP00000483597.1:p.Thr25312= | |
| NM_001256850.1:c.75936G>A (TTN) | NP_001243779.1:p.Thr25312= | |
| NM_001267550.2:c.80859G>A (TTN) MANE Select | NP_001254479.2:p.Thr26953= | |
| NM_003319.4:c.53664G>A (TTN) | NP_003310.4:p.Thr17888= | |
| NM_133378.4:c.73155G>A (TTN) | NP_596869.4:p.Thr24385= | |
| NM_133432.3:c.54039G>A (TTN) | NP_597676.3:p.Thr18013= | |
| NM_133437.4:c.54240G>A (TTN) | NP_597681.4:p.Thr18080= | |
| NR_038271.1:n.447-6027C>T (TTN-AS1) | ||
| NR_038272.1:n.2044-17299C>T (TTN-AS1) | ||
| XM_011511729.1:c.79956G>A (TTN) | XP_011510031.1:p.Thr26652= | |
| XM_011511730.1:c.53850G>A (TTN) | XP_011510032.1:p.Thr17950= | |
| XM_011511731.1:c.53709G>A (TTN) | XP_011510033.1:p.Thr17903= | |
| XM_017004819.1:c.79752G>A (TTN) | XP_016860308.1:p.Thr26584= | |
| XM_017004820.1:c.75150G>A (TTN) | XP_016860309.1:p.Thr25050= | |
| XM_017004821.1:c.75147G>A (TTN) | XP_016860310.1:p.Thr25049= | |
| XM_017004822.1:c.72189G>A (TTN) | XP_016860311.1:p.Thr24063= | |
| XM_017004823.1:c.53805G>A (TTN) | XP_016860312.1:p.Thr17935= | |
| XM_024453094.1:c.75300G>A (TTN) | XP_024308862.1:p.Thr25100= | |
| XM_024453095.1:c.75297G>A (TTN) | XP_024308863.1:p.Thr25099= | |
| XM_024453096.1:c.74730G>A (TTN) | XP_024308864.1:p.Thr24910= | |
| XM_024453097.1:c.72072G>A (TTN) | XP_024308865.1:p.Thr24024= | |
| XM_024453098.1:c.71991G>A (TTN) | XP_024308866.1:p.Thr23997= | |
| XM_024453099.1:c.53754G>A (TTN) | XP_024308867.1:p.Thr17918= | |
| XM_024453100.1:c.43608G>A (TTN) | XP_024308868.1:p.Thr14536= |