Linked Data
ClinVar Variation Id:
212470
dbSNP Id:
rs200456782
ExAC:
2:179474150 C / T
gnomAD v2:
2-179474150-C-T
gnomAD v3:
2-178609423-C-T
gnomAD v4:
2-178609423-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178609423C>T , CM000664.2:g.178609423C>T | GRCh38 |
| NC_000002.11:g.179474150C>T , CM000664.1:g.179474150C>T | GRCh37 |
| NC_000002.10:g.179182395C>T | NCBI36 |
| NG_011618.3:g.226380G>A , LRG_391:g.226380G>A | |
| NG_051363.1:g.91597C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.44183G>A (TTN) | ENSP00000343764.6:p.Arg14728His | |
| ENST00000342175.11:c.25268G>A (TTN) | ENSP00000340554.6:p.Arg8423His | |
| ENST00000359218.10:c.25067G>A (TTN) | ENSP00000352154.5:p.Arg8356His | |
| ENST00000342175.10:c.25268G>A (TTN) | ENSP00000340554.6:p.Arg8423His | |
| ENST00000342992.10:c.44183G>A (TTN) | ENSP00000343764.6:p.Arg14728His | |
| ENST00000359218.9:c.25067G>A (TTN) | ENSP00000352154.5:p.Arg8356His | |
| ENST00000460472.6:c.24692G>A (TTN) | ENSP00000434586.1:p.Arg8231His | |
| ENST00000589042.5:c.51887G>A (TTN) MANE Select | ENSP00000467141.1:p.Arg17296His | |
| ENST00000591111.5:c.46964G>A (TTN) | ENSP00000465570.1:p.Arg15655His | |
| ENST00000615779.4:c.46964G>A (TTN) | ENSP00000483597.1:p.Arg15655His | |
| NM_001256850.1:c.46964G>A (TTN) | NP_001243779.1:p.Arg15655His | |
| NM_001267550.2:c.51887G>A (TTN) MANE Select | NP_001254479.2:p.Arg17296His | |
| NM_003319.4:c.24692G>A (TTN) | NP_003310.4:p.Arg8231His | |
| NM_133378.4:c.44183G>A (TTN) | NP_596869.4:p.Arg14728His | |
| NM_133432.3:c.25067G>A (TTN) | NP_597676.3:p.Arg8356His | |
| NM_133437.4:c.25268G>A (TTN) | NP_597681.4:p.Arg8423His | |
| NR_038271.1:n.782+1157C>T (TTN-AS1) | ||
| XM_011511729.1:c.50984G>A (TTN) | XP_011510031.1:p.Arg16995His | |
| XM_011511730.1:c.24878G>A (TTN) | XP_011510032.1:p.Arg8293His | |
| XM_011511731.1:c.24737G>A (TTN) | XP_011510033.1:p.Arg8246His | |
| XM_017004819.1:c.50780G>A (TTN) | XP_016860308.1:p.Arg16927His | |
| XM_017004820.1:c.46178G>A (TTN) | XP_016860309.1:p.Arg15393His | |
| XM_017004821.1:c.46175G>A (TTN) | XP_016860310.1:p.Arg15392His | |
| XM_017004822.1:c.43217G>A (TTN) | XP_016860311.1:p.Arg14406His | |
| XM_017004823.1:c.24833G>A (TTN) | XP_016860312.1:p.Arg8278His | |
| XM_024453094.1:c.46328G>A (TTN) | XP_024308862.1:p.Arg15443His | |
| XM_024453095.1:c.46325G>A (TTN) | XP_024308863.1:p.Arg15442His | |
| XM_024453096.1:c.45758G>A (TTN) | XP_024308864.1:p.Arg15253His | |
| XM_024453097.1:c.43100G>A (TTN) | XP_024308865.1:p.Arg14367His | |
| XM_024453098.1:c.43019G>A (TTN) | XP_024308866.1:p.Arg14340His | |
| XM_024453099.1:c.24782G>A (TTN) | XP_024308867.1:p.Arg8261His | |
| XM_024453100.1:c.14636G>A (TTN) | XP_024308868.1:p.Arg4879His |