Linked Data
ClinVar Variation Id:
413216
dbSNP Id:
rs72677245
ExAC:
2:179478604 A / T
gnomAD v2:
2-179478604-A-T
gnomAD v3:
2-178613877-A-T
gnomAD v4:
2-178613877-A-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178613877A>T , CM000664.2:g.178613877A>T | GRCh38 |
| NC_000002.11:g.179478604A>T , CM000664.1:g.179478604A>T | GRCh37 |
| NC_000002.10:g.179186849A>T | NCBI36 |
| NG_011618.3:g.221926T>A , LRG_391:g.221926T>A | |
| NG_051363.1:g.96051A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.41702T>A (TTN) | ENSP00000343764.6:p.Leu13901His | |
| ENST00000342175.11:c.22787T>A (TTN) | ENSP00000340554.6:p.Leu7596His | |
| ENST00000359218.10:c.22586T>A (TTN) | ENSP00000352154.5:p.Leu7529His | |
| ENST00000342175.10:c.22787T>A (TTN) | ENSP00000340554.6:p.Leu7596His | |
| ENST00000342992.10:c.41702T>A (TTN) | ENSP00000343764.6:p.Leu13901His | |
| ENST00000359218.9:c.22586T>A (TTN) | ENSP00000352154.5:p.Leu7529His | |
| ENST00000460472.6:c.22211T>A (TTN) | ENSP00000434586.1:p.Leu7404His | |
| ENST00000589042.5:c.49406T>A (TTN) MANE Select | ENSP00000467141.1:p.Leu16469His | |
| ENST00000591111.5:c.44483T>A (TTN) | ENSP00000465570.1:p.Leu14828His | |
| ENST00000615779.4:c.44483T>A (TTN) | ENSP00000483597.1:p.Leu14828His | |
| NM_001256850.1:c.44483T>A (TTN) | NP_001243779.1:p.Leu14828His | |
| NM_001267550.2:c.49406T>A (TTN) MANE Select | NP_001254479.2:p.Leu16469His | |
| NM_003319.4:c.22211T>A (TTN) | NP_003310.4:p.Leu7404His | |
| NM_133378.4:c.41702T>A (TTN) | NP_596869.4:p.Leu13901His | |
| NM_133432.3:c.22586T>A (TTN) | NP_597676.3:p.Leu7529His | |
| NM_133437.4:c.22787T>A (TTN) | NP_597681.4:p.Leu7596His | |
| NR_038271.1:n.783-158A>T (TTN-AS1) | ||
| XM_011511729.1:c.48503T>A (TTN) | XP_011510031.1:p.Leu16168His | |
| XM_011511730.1:c.22397T>A (TTN) | XP_011510032.1:p.Leu7466His | |
| XM_011511731.1:c.22256T>A (TTN) | XP_011510033.1:p.Leu7419His | |
| XM_017004819.1:c.48299T>A (TTN) | XP_016860308.1:p.Leu16100His | |
| XM_017004820.1:c.43697T>A (TTN) | XP_016860309.1:p.Leu14566His | |
| XM_017004821.1:c.43694T>A (TTN) | XP_016860310.1:p.Leu14565His | |
| XM_017004822.1:c.40736T>A (TTN) | XP_016860311.1:p.Leu13579His | |
| XM_017004823.1:c.22352T>A (TTN) | XP_016860312.1:p.Leu7451His | |
| XM_024453094.1:c.43847T>A (TTN) | XP_024308862.1:p.Leu14616His | |
| XM_024453095.1:c.43844T>A (TTN) | XP_024308863.1:p.Leu14615His | |
| XM_024453096.1:c.43277T>A (TTN) | XP_024308864.1:p.Leu14426His | |
| XM_024453097.1:c.40619T>A (TTN) | XP_024308865.1:p.Leu13540His | |
| XM_024453098.1:c.40538T>A (TTN) | XP_024308866.1:p.Leu13513His | |
| XM_024453099.1:c.22301T>A (TTN) | XP_024308867.1:p.Leu7434His | |
| XM_024453100.1:c.12155T>A (TTN) | XP_024308868.1:p.Leu4052His |