Linked Data
ClinVar Variation Id:
263757
dbSNP Id:
rs756091180
ExAC:
2:179456538 C / T
gnomAD v2:
2-179456538-C-T
gnomAD v3:
2-178591811-C-T
gnomAD v4:
2-178591811-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178591811C>T , CM000664.2:g.178591811C>T | GRCh38 |
| NC_000002.11:g.179456538C>T , CM000664.1:g.179456538C>T | GRCh37 |
| NC_000002.10:g.179164784C>T | NCBI36 |
| NG_011618.3:g.243992G>A , LRG_391:g.243992G>A | |
| NG_051363.1:g.73985C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.52304G>A (TTN) | ENSP00000343764.6:p.Arg17435His | |
| ENST00000342175.11:c.33389G>A (TTN) | ENSP00000340554.6:p.Arg11130His | |
| ENST00000359218.10:c.33188G>A (TTN) | ENSP00000352154.5:p.Arg11063His | |
| ENST00000342175.10:c.33389G>A (TTN) | ENSP00000340554.6:p.Arg11130His | |
| ENST00000342992.10:c.52304G>A (TTN) | ENSP00000343764.6:p.Arg17435His | |
| ENST00000359218.9:c.33188G>A (TTN) | ENSP00000352154.5:p.Arg11063His | |
| ENST00000460472.6:c.32813G>A (TTN) | ENSP00000434586.1:p.Arg10938His | |
| ENST00000589042.5:c.60008G>A (TTN) MANE Select | ENSP00000467141.1:p.Arg20003His | |
| ENST00000591111.5:c.55085G>A (TTN) | ENSP00000465570.1:p.Arg18362His | |
| ENST00000615779.4:c.55085G>A (TTN) | ENSP00000483597.1:p.Arg18362His | |
| NM_001256850.1:c.55085G>A (TTN) | NP_001243779.1:p.Arg18362His | |
| NM_001267550.2:c.60008G>A (TTN) MANE Select | NP_001254479.2:p.Arg20003His | |
| NM_003319.4:c.32813G>A (TTN) | NP_003310.4:p.Arg10938His | |
| NM_133378.4:c.52304G>A (TTN) | NP_596869.4:p.Arg17435His | |
| NM_133432.3:c.33188G>A (TTN) | NP_597676.3:p.Arg11063His | |
| NM_133437.4:c.33389G>A (TTN) | NP_597681.4:p.Arg11130His | |
| NR_038271.1:n.597-5785C>T (TTN-AS1) | ||
| NR_038272.1:n.3364+497C>T (TTN-AS1) | ||
| XM_011511729.1:c.59105G>A (TTN) | XP_011510031.1:p.Arg19702His | |
| XM_011511730.1:c.32999G>A (TTN) | XP_011510032.1:p.Arg11000His | |
| XM_011511731.1:c.32858G>A (TTN) | XP_011510033.1:p.Arg10953His | |
| XM_017004819.1:c.58901G>A (TTN) | XP_016860308.1:p.Arg19634His | |
| XM_017004820.1:c.54299G>A (TTN) | XP_016860309.1:p.Arg18100His | |
| XM_017004821.1:c.54296G>A (TTN) | XP_016860310.1:p.Arg18099His | |
| XM_017004822.1:c.51338G>A (TTN) | XP_016860311.1:p.Arg17113His | |
| XM_017004823.1:c.32954G>A (TTN) | XP_016860312.1:p.Arg10985His | |
| XM_024453094.1:c.54449G>A (TTN) | XP_024308862.1:p.Arg18150His | |
| XM_024453095.1:c.54446G>A (TTN) | XP_024308863.1:p.Arg18149His | |
| XM_024453096.1:c.53879G>A (TTN) | XP_024308864.1:p.Arg17960His | |
| XM_024453097.1:c.51221G>A (TTN) | XP_024308865.1:p.Arg17074His | |
| XM_024453098.1:c.51140G>A (TTN) | XP_024308866.1:p.Arg17047His | |
| XM_024453099.1:c.32903G>A (TTN) | XP_024308867.1:p.Arg10968His | |
| XM_024453100.1:c.22757G>A (TTN) | XP_024308868.1:p.Arg7586His |