Linked Data
ClinVar Variation Id:
202763
dbSNP Id:
rs201693851
ExAC:
2:179453945 C / T
gnomAD v2:
2-179453945-C-T
gnomAD v3:
2-178589218-C-T
gnomAD v4:
2-178589218-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178589218C>T , CM000664.2:g.178589218C>T | GRCh38 |
| NC_000002.11:g.179453945C>T , CM000664.1:g.179453945C>T | GRCh37 |
| NC_000002.10:g.179162191C>T | NCBI36 |
| NG_011618.3:g.246585G>A , LRG_391:g.246585G>A | |
| NG_051363.1:g.71392C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000342992.11:c.54803G>A (TTN) | ENSP00000343764.6:p.Arg18268Gln | |
| ENST00000342175.11:c.35888G>A (TTN) | ENSP00000340554.6:p.Arg11963Gln | |
| ENST00000359218.10:c.35687G>A (TTN) | ENSP00000352154.5:p.Arg11896Gln | |
| ENST00000342175.10:c.35888G>A (TTN) | ENSP00000340554.6:p.Arg11963Gln | |
| ENST00000342992.10:c.54803G>A (TTN) | ENSP00000343764.6:p.Arg18268Gln | |
| ENST00000359218.9:c.35687G>A (TTN) | ENSP00000352154.5:p.Arg11896Gln | |
| ENST00000460472.6:c.35312G>A (TTN) | ENSP00000434586.1:p.Arg11771Gln | |
| ENST00000589042.5:c.62507G>A (TTN) MANE Select | ENSP00000467141.1:p.Arg20836Gln | |
| ENST00000591111.5:c.57584G>A (TTN) | ENSP00000465570.1:p.Arg19195Gln | |
| ENST00000615779.4:c.57584G>A (TTN) | ENSP00000483597.1:p.Arg19195Gln | |
| NM_001256850.1:c.57584G>A (TTN) | NP_001243779.1:p.Arg19195Gln | |
| NM_001267550.2:c.62507G>A (TTN) MANE Select | NP_001254479.2:p.Arg20836Gln | |
| NM_003319.4:c.35312G>A (TTN) | NP_003310.4:p.Arg11771Gln | |
| NM_133378.4:c.54803G>A (TTN) | NP_596869.4:p.Arg18268Gln | |
| NM_133432.3:c.35687G>A (TTN) | NP_597676.3:p.Arg11896Gln | |
| NM_133437.4:c.35888G>A (TTN) | NP_597681.4:p.Arg11963Gln | |
| NR_038271.1:n.597-8378C>T (TTN-AS1) | ||
| NR_038272.1:n.3189-1921C>T (TTN-AS1) | ||
| XM_011511729.1:c.61604G>A (TTN) | XP_011510031.1:p.Arg20535Gln | |
| XM_011511730.1:c.35498G>A (TTN) | XP_011510032.1:p.Arg11833Gln | |
| XM_011511731.1:c.35357G>A (TTN) | XP_011510033.1:p.Arg11786Gln | |
| XM_017004819.1:c.61400G>A (TTN) | XP_016860308.1:p.Arg20467Gln | |
| XM_017004820.1:c.56798G>A (TTN) | XP_016860309.1:p.Arg18933Gln | |
| XM_017004821.1:c.56795G>A (TTN) | XP_016860310.1:p.Arg18932Gln | |
| XM_017004822.1:c.53837G>A (TTN) | XP_016860311.1:p.Arg17946Gln | |
| XM_017004823.1:c.35453G>A (TTN) | XP_016860312.1:p.Arg11818Gln | |
| XM_024453094.1:c.56948G>A (TTN) | XP_024308862.1:p.Arg18983Gln | |
| XM_024453095.1:c.56945G>A (TTN) | XP_024308863.1:p.Arg18982Gln | |
| XM_024453096.1:c.56378G>A (TTN) | XP_024308864.1:p.Arg18793Gln | |
| XM_024453097.1:c.53720G>A (TTN) | XP_024308865.1:p.Arg17907Gln | |
| XM_024453098.1:c.53639G>A (TTN) | XP_024308866.1:p.Arg17880Gln | |
| XM_024453099.1:c.35402G>A (TTN) | XP_024308867.1:p.Arg11801Gln | |
| XM_024453100.1:c.25256G>A (TTN) | XP_024308868.1:p.Arg8419Gln |