Linked Data
ClinVar Variation Id:
202334
dbSNP Id:
rs370948914
ExAC:
2:179422449 C / T
gnomAD v2:
2-179422449-C-T
gnomAD v3:
2-178557722-C-T
gnomAD v4:
2-178557722-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178557722C>T , CM000664.2:g.178557722C>T | GRCh38 |
| NC_000002.11:g.179422449C>T , CM000664.1:g.179422449C>T | GRCh37 |
| NC_000002.10:g.179130695C>T | NCBI36 |
| NG_011618.3:g.278081G>A , LRG_391:g.278081G>A | |
| NG_051363.1:g.39896C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.79928G>A (TTN) | ENSP00000343764.6:p.Arg26643His | |
| ENST00000342175.11:c.61013G>A (TTN) | ENSP00000340554.6:p.Arg20338His | |
| ENST00000359218.10:c.60812G>A (TTN) | ENSP00000352154.5:p.Arg20271His | |
| ENST00000342175.10:c.61013G>A (TTN) | ENSP00000340554.6:p.Arg20338His | |
| ENST00000342992.10:c.79928G>A (TTN) | ENSP00000343764.6:p.Arg26643His | |
| ENST00000359218.9:c.60812G>A (TTN) | ENSP00000352154.5:p.Arg20271His | |
| ENST00000460472.6:c.60437G>A (TTN) | ENSP00000434586.1:p.Arg20146His | |
| ENST00000589042.5:c.87632G>A (TTN) MANE Select | ENSP00000467141.1:p.Arg29211His | |
| ENST00000591111.5:c.82709G>A (TTN) | ENSP00000465570.1:p.Arg27570His | |
| ENST00000615779.4:c.82709G>A (TTN) | ENSP00000483597.1:p.Arg27570His | |
| NM_001256850.1:c.82709G>A (TTN) | NP_001243779.1:p.Arg27570His | |
| NM_001267550.2:c.87632G>A (TTN) MANE Select | NP_001254479.2:p.Arg29211His | |
| NM_003319.4:c.60437G>A (TTN) | NP_003310.4:p.Arg20146His | |
| NM_133378.4:c.79928G>A (TTN) | NP_596869.4:p.Arg26643His | |
| NM_133432.3:c.60812G>A (TTN) | NP_597676.3:p.Arg20271His | |
| NM_133437.4:c.61013G>A (TTN) | NP_597681.4:p.Arg20338His | |
| NR_038271.1:n.447-13578C>T (TTN-AS1) | ||
| NR_038272.1:n.2043+15361C>T (TTN-AS1) | ||
| XM_011511729.1:c.86729G>A (TTN) | XP_011510031.1:p.Arg28910His | |
| XM_011511730.1:c.60623G>A (TTN) | XP_011510032.1:p.Arg20208His | |
| XM_011511731.1:c.60482G>A (TTN) | XP_011510033.1:p.Arg20161His | |
| XM_017004819.1:c.86525G>A (TTN) | XP_016860308.1:p.Arg28842His | |
| XM_017004820.1:c.81923G>A (TTN) | XP_016860309.1:p.Arg27308His | |
| XM_017004821.1:c.81920G>A (TTN) | XP_016860310.1:p.Arg27307His | |
| XM_017004822.1:c.78962G>A (TTN) | XP_016860311.1:p.Arg26321His | |
| XM_017004823.1:c.60578G>A (TTN) | XP_016860312.1:p.Arg20193His | |
| XM_024453094.1:c.82073G>A (TTN) | XP_024308862.1:p.Arg27358His | |
| XM_024453095.1:c.82070G>A (TTN) | XP_024308863.1:p.Arg27357His | |
| XM_024453096.1:c.81503G>A (TTN) | XP_024308864.1:p.Arg27168His | |
| XM_024453097.1:c.78845G>A (TTN) | XP_024308865.1:p.Arg26282His | |
| XM_024453098.1:c.78764G>A (TTN) | XP_024308866.1:p.Arg26255His | |
| XM_024453099.1:c.60527G>A (TTN) | XP_024308867.1:p.Arg20176His | |
| XM_024453100.1:c.50381G>A (TTN) | XP_024308868.1:p.Arg16794His |