Linked Data
ClinVar Variation Id:
202844
dbSNP Id:
rs199860952
ExAC:
2:179438035 T / A
gnomAD v2:
2-179438035-T-A
gnomAD v3:
2-178573308-T-A
gnomAD v4:
2-178573308-T-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178573308T>A , CM000664.2:g.178573308T>A | GRCh38 |
| NC_000002.11:g.179438035T>A , CM000664.1:g.179438035T>A | GRCh37 |
| NC_000002.10:g.179146281T>A | NCBI36 |
| NG_011618.3:g.262495A>T , LRG_391:g.262495A>T | |
| NG_051363.1:g.55482T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.65120A>T (TTN) | ENSP00000343764.6:p.Lys21707Ile | |
| ENST00000342175.11:c.46205A>T (TTN) | ENSP00000340554.6:p.Lys15402Ile | |
| ENST00000359218.10:c.46004A>T (TTN) | ENSP00000352154.5:p.Lys15335Ile | |
| ENST00000342175.10:c.46205A>T (TTN) | ENSP00000340554.6:p.Lys15402Ile | |
| ENST00000342992.10:c.65120A>T (TTN) | ENSP00000343764.6:p.Lys21707Ile | |
| ENST00000359218.9:c.46004A>T (TTN) | ENSP00000352154.5:p.Lys15335Ile | |
| ENST00000460472.6:c.45629A>T (TTN) | ENSP00000434586.1:p.Lys15210Ile | |
| ENST00000589042.5:c.72824A>T (TTN) MANE Select | ENSP00000467141.1:p.Lys24275Ile | |
| ENST00000591111.5:c.67901A>T (TTN) | ENSP00000465570.1:p.Lys22634Ile | |
| ENST00000615779.4:c.67901A>T (TTN) | ENSP00000483597.1:p.Lys22634Ile | |
| NM_001256850.1:c.67901A>T (TTN) | NP_001243779.1:p.Lys22634Ile | |
| NM_001267550.2:c.72824A>T (TTN) MANE Select | NP_001254479.2:p.Lys24275Ile | |
| NM_003319.4:c.45629A>T (TTN) | NP_003310.4:p.Lys15210Ile | |
| NM_133378.4:c.65120A>T (TTN) | NP_596869.4:p.Lys21707Ile | |
| NM_133432.3:c.46004A>T (TTN) | NP_597676.3:p.Lys15335Ile | |
| NM_133437.4:c.46205A>T (TTN) | NP_597681.4:p.Lys15402Ile | |
| NR_038271.1:n.596+1859T>A (TTN-AS1) | ||
| NR_038272.1:n.2044-9264T>A (TTN-AS1) | ||
| XM_011511729.1:c.71921A>T (TTN) | XP_011510031.1:p.Lys23974Ile | |
| XM_011511730.1:c.45815A>T (TTN) | XP_011510032.1:p.Lys15272Ile | |
| XM_011511731.1:c.45674A>T (TTN) | XP_011510033.1:p.Lys15225Ile | |
| XM_017004819.1:c.71717A>T (TTN) | XP_016860308.1:p.Lys23906Ile | |
| XM_017004820.1:c.67115A>T (TTN) | XP_016860309.1:p.Lys22372Ile | |
| XM_017004821.1:c.67112A>T (TTN) | XP_016860310.1:p.Lys22371Ile | |
| XM_017004822.1:c.64154A>T (TTN) | XP_016860311.1:p.Lys21385Ile | |
| XM_017004823.1:c.45770A>T (TTN) | XP_016860312.1:p.Lys15257Ile | |
| XM_024453094.1:c.67265A>T (TTN) | XP_024308862.1:p.Lys22422Ile | |
| XM_024453095.1:c.67262A>T (TTN) | XP_024308863.1:p.Lys22421Ile | |
| XM_024453096.1:c.66695A>T (TTN) | XP_024308864.1:p.Lys22232Ile | |
| XM_024453097.1:c.64037A>T (TTN) | XP_024308865.1:p.Lys21346Ile | |
| XM_024453098.1:c.63956A>T (TTN) | XP_024308866.1:p.Lys21319Ile | |
| XM_024453099.1:c.45719A>T (TTN) | XP_024308867.1:p.Lys15240Ile | |
| XM_024453100.1:c.35573A>T (TTN) | XP_024308868.1:p.Lys11858Ile |