Linked Data
ClinVar Variation Id:
212485
dbSNP Id:
rs797046068
gnomAD v3:
2-178535002-C-T
gnomAD v4:
2-178535002-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178535002C>T , CM000664.2:g.178535002C>T | GRCh38 |
| NC_000002.11:g.179399729C>T , CM000664.1:g.179399729C>T | GRCh37 |
| NC_000002.10:g.179107975C>T | NCBI36 |
| NG_011618.3:g.300801G>A , LRG_391:g.300801G>A | |
| NG_051363.1:g.17176C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.93909G>A (TTN) | ENSP00000343764.6:p.Arg31303= | |
| ENST00000342175.11:c.74994G>A (TTN) | ENSP00000340554.6:p.Arg24998= | |
| ENST00000359218.10:c.74793G>A (TTN) | ENSP00000352154.5:p.Arg24931= | |
| ENST00000342175.10:c.74994G>A (TTN) | ENSP00000340554.6:p.Arg24998= | |
| ENST00000342992.10:c.93909G>A (TTN) | ENSP00000343764.6:p.Arg31303= | |
| ENST00000359218.9:c.74793G>A (TTN) | ENSP00000352154.5:p.Arg24931= | |
| ENST00000460472.6:c.74418G>A (TTN) | ENSP00000434586.1:p.Arg24806= | |
| ENST00000589042.5:c.101613G>A (TTN) MANE Select | ENSP00000467141.1:p.Arg33871= | |
| ENST00000591111.5:c.96690G>A (TTN) | ENSP00000465570.1:p.Arg32230= | |
| ENST00000615779.4:c.96690G>A (TTN) | ENSP00000483597.1:p.Arg32230= | |
| NM_001256850.1:c.96690G>A (TTN) | NP_001243779.1:p.Arg32230= | |
| NM_001267550.2:c.101613G>A (TTN) MANE Select | NP_001254479.2:p.Arg33871= | |
| NM_003319.4:c.74418G>A (TTN) | NP_003310.4:p.Arg24806= | |
| NM_133378.4:c.93909G>A (TTN) | NP_596869.4:p.Arg31303= | |
| NM_133432.3:c.74793G>A (TTN) | NP_597676.3:p.Arg24931= | |
| NM_133437.4:c.74994G>A (TTN) | NP_597681.4:p.Arg24998= | |
| NR_038271.1:n.446+11366C>T (TTN-AS1) | ||
| NR_038272.1:n.220-730C>T (TTN-AS1) | ||
| XM_011511729.1:c.100710G>A (TTN) | XP_011510031.1:p.Arg33570= | |
| XM_011511730.1:c.74604G>A (TTN) | XP_011510032.1:p.Arg24868= | |
| XM_011511731.1:c.74463G>A (TTN) | XP_011510033.1:p.Arg24821= | |
| XM_017004819.1:c.100506G>A (TTN) | XP_016860308.1:p.Arg33502= | |
| XM_017004820.1:c.95904G>A (TTN) | XP_016860309.1:p.Arg31968= | |
| XM_017004821.1:c.95901G>A (TTN) | XP_016860310.1:p.Arg31967= | |
| XM_017004822.1:c.92943G>A (TTN) | XP_016860311.1:p.Arg30981= | |
| XM_017004823.1:c.74559G>A (TTN) | XP_016860312.1:p.Arg24853= | |
| XM_024453094.1:c.96054G>A (TTN) | XP_024308862.1:p.Arg32018= | |
| XM_024453095.1:c.96051G>A (TTN) | XP_024308863.1:p.Arg32017= | |
| XM_024453096.1:c.95484G>A (TTN) | XP_024308864.1:p.Arg31828= | |
| XM_024453097.1:c.92826G>A (TTN) | XP_024308865.1:p.Arg30942= | |
| XM_024453098.1:c.92745G>A (TTN) | XP_024308866.1:p.Arg30915= | |
| XM_024453099.1:c.74508G>A (TTN) | XP_024308867.1:p.Arg24836= | |
| XM_024453100.1:c.64362G>A (TTN) | XP_024308868.1:p.Arg21454= |