Linked Data
ClinVar Variation Id:
165911
dbSNP Id:
rs727503585
ExAC:
2:179453387 C / T
gnomAD v2:
2-179453387-C-T
gnomAD v3:
2-178588660-C-T
gnomAD v4:
2-178588660-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178588660C>T , CM000664.2:g.178588660C>T | GRCh38 |
| NC_000002.11:g.179453387C>T , CM000664.1:g.179453387C>T | GRCh37 |
| NC_000002.10:g.179161633C>T | NCBI36 |
| NG_011618.3:g.247143G>A , LRG_391:g.247143G>A | |
| NG_051363.1:g.70834C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.55361G>A (TTN) | ENSP00000343764.6:p.Arg18454His | |
| ENST00000342175.11:c.36446G>A (TTN) | ENSP00000340554.6:p.Arg12149His | |
| ENST00000359218.10:c.36245G>A (TTN) | ENSP00000352154.5:p.Arg12082His | |
| ENST00000342175.10:c.36446G>A (TTN) | ENSP00000340554.6:p.Arg12149His | |
| ENST00000342992.10:c.55361G>A (TTN) | ENSP00000343764.6:p.Arg18454His | |
| ENST00000359218.9:c.36245G>A (TTN) | ENSP00000352154.5:p.Arg12082His | |
| ENST00000460472.6:c.35870G>A (TTN) | ENSP00000434586.1:p.Arg11957His | |
| ENST00000589042.5:c.63065G>A (TTN) MANE Select | ENSP00000467141.1:p.Arg21022His | |
| ENST00000591111.5:c.58142G>A (TTN) | ENSP00000465570.1:p.Arg19381His | |
| ENST00000615779.4:c.58142G>A (TTN) | ENSP00000483597.1:p.Arg19381His | |
| NM_001256850.1:c.58142G>A (TTN) | NP_001243779.1:p.Arg19381His | |
| NM_001267550.2:c.63065G>A (TTN) MANE Select | NP_001254479.2:p.Arg21022His | |
| NM_003319.4:c.35870G>A (TTN) | NP_003310.4:p.Arg11957His | |
| NM_133378.4:c.55361G>A (TTN) | NP_596869.4:p.Arg18454His | |
| NM_133432.3:c.36245G>A (TTN) | NP_597676.3:p.Arg12082His | |
| NM_133437.4:c.36446G>A (TTN) | NP_597681.4:p.Arg12149His | |
| NR_038271.1:n.597-8936C>T (TTN-AS1) | ||
| NR_038272.1:n.3189-2479C>T (TTN-AS1) | ||
| XM_011511729.1:c.62162G>A (TTN) | XP_011510031.1:p.Arg20721His | |
| XM_011511730.1:c.36056G>A (TTN) | XP_011510032.1:p.Arg12019His | |
| XM_011511731.1:c.35915G>A (TTN) | XP_011510033.1:p.Arg11972His | |
| XM_017004819.1:c.61958G>A (TTN) | XP_016860308.1:p.Arg20653His | |
| XM_017004820.1:c.57356G>A (TTN) | XP_016860309.1:p.Arg19119His | |
| XM_017004821.1:c.57353G>A (TTN) | XP_016860310.1:p.Arg19118His | |
| XM_017004822.1:c.54395G>A (TTN) | XP_016860311.1:p.Arg18132His | |
| XM_017004823.1:c.36011G>A (TTN) | XP_016860312.1:p.Arg12004His | |
| XM_024453094.1:c.57506G>A (TTN) | XP_024308862.1:p.Arg19169His | |
| XM_024453095.1:c.57503G>A (TTN) | XP_024308863.1:p.Arg19168His | |
| XM_024453096.1:c.56936G>A (TTN) | XP_024308864.1:p.Arg18979His | |
| XM_024453097.1:c.54278G>A (TTN) | XP_024308865.1:p.Arg18093His | |
| XM_024453098.1:c.54197G>A (TTN) | XP_024308866.1:p.Arg18066His | |
| XM_024453099.1:c.35960G>A (TTN) | XP_024308867.1:p.Arg11987His | |
| XM_024453100.1:c.25814G>A (TTN) | XP_024308868.1:p.Arg8605His |