Linked Data
ClinVar Variation Id:
467392
dbSNP Id:
rs751354601
ExAC:
2:179446292 C / T
gnomAD v2:
2-179446292-C-T
gnomAD v3:
2-178581565-C-T
gnomAD v4:
2-178581565-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178581565C>T , CM000664.2:g.178581565C>T | GRCh38 |
| NC_000002.11:g.179446292C>T , CM000664.1:g.179446292C>T | GRCh37 |
| NC_000002.10:g.179154538C>T | NCBI36 |
| NG_011618.3:g.254238G>A , LRG_391:g.254238G>A | |
| NG_051363.1:g.63739C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.58999G>A (TTN) | ENSP00000343764.6:p.Val19667Ile | |
| ENST00000342175.11:c.40084G>A (TTN) | ENSP00000340554.6:p.Val13362Ile | |
| ENST00000359218.10:c.39883G>A (TTN) | ENSP00000352154.5:p.Val13295Ile | |
| ENST00000342175.10:c.40084G>A (TTN) | ENSP00000340554.6:p.Val13362Ile | |
| ENST00000342992.10:c.58999G>A (TTN) | ENSP00000343764.6:p.Val19667Ile | |
| ENST00000359218.9:c.39883G>A (TTN) | ENSP00000352154.5:p.Val13295Ile | |
| ENST00000460472.6:c.39508G>A (TTN) | ENSP00000434586.1:p.Val13170Ile | |
| ENST00000589042.5:c.66703G>A (TTN) MANE Select | ENSP00000467141.1:p.Val22235Ile | |
| ENST00000591111.5:c.61780G>A (TTN) | ENSP00000465570.1:p.Val20594Ile | |
| ENST00000615779.4:c.61780G>A (TTN) | ENSP00000483597.1:p.Val20594Ile | |
| NM_001256850.1:c.61780G>A (TTN) | NP_001243779.1:p.Val20594Ile | |
| NM_001267550.2:c.66703G>A (TTN) MANE Select | NP_001254479.2:p.Val22235Ile | |
| NM_003319.4:c.39508G>A (TTN) | NP_003310.4:p.Val13170Ile | |
| NM_133378.4:c.58999G>A (TTN) | NP_596869.4:p.Val19667Ile | |
| NM_133432.3:c.39883G>A (TTN) | NP_597676.3:p.Val13295Ile | |
| NM_133437.4:c.40084G>A (TTN) | NP_597681.4:p.Val13362Ile | |
| NR_038271.1:n.596+10116C>T (TTN-AS1) | ||
| NR_038272.1:n.2044-1007C>T (TTN-AS1) | ||
| XM_011511729.1:c.65800G>A (TTN) | XP_011510031.1:p.Val21934Ile | |
| XM_011511730.1:c.39694G>A (TTN) | XP_011510032.1:p.Val13232Ile | |
| XM_011511731.1:c.39553G>A (TTN) | XP_011510033.1:p.Val13185Ile | |
| XM_017004819.1:c.65596G>A (TTN) | XP_016860308.1:p.Val21866Ile | |
| XM_017004820.1:c.60994G>A (TTN) | XP_016860309.1:p.Val20332Ile | |
| XM_017004821.1:c.60991G>A (TTN) | XP_016860310.1:p.Val20331Ile | |
| XM_017004822.1:c.58033G>A (TTN) | XP_016860311.1:p.Val19345Ile | |
| XM_017004823.1:c.39649G>A (TTN) | XP_016860312.1:p.Val13217Ile | |
| XM_024453094.1:c.61144G>A (TTN) | XP_024308862.1:p.Val20382Ile | |
| XM_024453095.1:c.61141G>A (TTN) | XP_024308863.1:p.Val20381Ile | |
| XM_024453096.1:c.60574G>A (TTN) | XP_024308864.1:p.Val20192Ile | |
| XM_024453097.1:c.57916G>A (TTN) | XP_024308865.1:p.Val19306Ile | |
| XM_024453098.1:c.57835G>A (TTN) | XP_024308866.1:p.Val19279Ile | |
| XM_024453099.1:c.39598G>A (TTN) | XP_024308867.1:p.Val13200Ile | |
| XM_024453100.1:c.29452G>A (TTN) | XP_024308868.1:p.Val9818Ile |