Linked Data
ClinVar Variation Id:
507493
dbSNP Id:
rs772730956
ExAC:
2:179456638 A / T
gnomAD v2:
2-179456638-A-T
gnomAD v3:
2-178591911-A-T
gnomAD v4:
2-178591911-A-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178591911A>T , CM000664.2:g.178591911A>T | GRCh38 |
| NC_000002.11:g.179456638A>T , CM000664.1:g.179456638A>T | GRCh37 |
| NC_000002.10:g.179164884A>T | NCBI36 |
| NG_011618.3:g.243892T>A , LRG_391:g.243892T>A | |
| NG_051363.1:g.74085A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.52223-19T>A (TTN) | ENSP00000343764.6:n.52223-19T>A | |
| ENST00000342175.11:c.33308-19T>A (TTN) | ENSP00000340554.6:n.33308-19T>A | |
| ENST00000359218.10:c.33107-19T>A (TTN) | ENSP00000352154.5:n.33107-19T>A | |
| ENST00000342175.10:c.33308-19T>A (TTN) | ENSP00000340554.6:n.33308-19T>A | |
| ENST00000342992.10:c.52223-19T>A (TTN) | ENSP00000343764.6:n.52223-19T>A | |
| ENST00000359218.9:c.33107-19T>A (TTN) | ENSP00000352154.5:n.33107-19T>A | |
| ENST00000460472.6:c.32732-19T>A (TTN) | ENSP00000434586.1:n.32732-19T>A | |
| ENST00000589042.5:c.59927-19T>A (TTN) MANE Select | ENSP00000467141.1:n.59927-19T>A | |
| ENST00000591111.5:c.55004-19T>A (TTN) | ENSP00000465570.1:n.55004-19T>A | |
| ENST00000615779.4:c.55004-19T>A (TTN) | ENSP00000483597.1:n.55004-19T>A | |
| NM_001256850.1:c.55004-19T>A (TTN) | NP_001243779.1:n.55004-19T>A | |
| NM_001267550.2:c.59927-19T>A (TTN) MANE Select | NP_001254479.2:n.59927-19T>A | |
| NM_003319.4:c.32732-19T>A (TTN) | NP_003310.4:n.32732-19T>A | |
| NM_133378.4:c.52223-19T>A (TTN) | NP_596869.4:n.52223-19T>A | |
| NM_133432.3:c.33107-19T>A (TTN) | NP_597676.3:n.33107-19T>A | |
| NM_133437.4:c.33308-19T>A (TTN) | NP_597681.4:n.33308-19T>A | |
| NR_038271.1:n.597-5685A>T (TTN-AS1) | ||
| NR_038272.1:n.3364+597A>T (TTN-AS1) | ||
| XM_011511729.1:c.59024-19T>A (TTN) | XP_011510031.1:n.59024-19T>A | |
| XM_011511730.1:c.32918-19T>A (TTN) | XP_011510032.1:n.32918-19T>A | |
| XM_011511731.1:c.32777-19T>A (TTN) | XP_011510033.1:n.32777-19T>A | |
| XM_017004819.1:c.58820-19T>A (TTN) | XP_016860308.1:n.58820-19T>A | |
| XM_017004820.1:c.54218-19T>A (TTN) | XP_016860309.1:n.54218-19T>A | |
| XM_017004821.1:c.54215-19T>A (TTN) | XP_016860310.1:n.54215-19T>A | |
| XM_017004822.1:c.51257-19T>A (TTN) | XP_016860311.1:n.51257-19T>A | |
| XM_017004823.1:c.32873-19T>A (TTN) | XP_016860312.1:n.32873-19T>A | |
| XM_024453094.1:c.54368-19T>A (TTN) | XP_024308862.1:n.54368-19T>A | |
| XM_024453095.1:c.54365-19T>A (TTN) | XP_024308863.1:n.54365-19T>A | |
| XM_024453096.1:c.53798-19T>A (TTN) | XP_024308864.1:n.53798-19T>A | |
| XM_024453097.1:c.51140-19T>A (TTN) | XP_024308865.1:n.51140-19T>A | |
| XM_024453098.1:c.51059-19T>A (TTN) | XP_024308866.1:n.51059-19T>A | |
| XM_024453099.1:c.32822-19T>A (TTN) | XP_024308867.1:n.32822-19T>A | |
| XM_024453100.1:c.22676-19T>A (TTN) | XP_024308868.1:n.22676-19T>A |