Linked Data
ClinVar Variation Id:
467397
dbSNP Id:
rs772361876
ExAC:
2:179445148 G / A
gnomAD v2:
2-179445148-G-A
gnomAD v3:
2-178580421-G-A
gnomAD v4:
2-178580421-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178580421G>A , CM000664.2:g.178580421G>A | GRCh38 |
| NC_000002.11:g.179445148G>A , CM000664.1:g.179445148G>A | GRCh37 |
| NC_000002.10:g.179153394G>A | NCBI36 |
| NG_011618.3:g.255382C>T , LRG_391:g.255382C>T | |
| NG_051363.1:g.62595G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.59254C>T (TTN) | ENSP00000343764.6:p.Arg19752Cys | |
| ENST00000342175.11:c.40339C>T (TTN) | ENSP00000340554.6:p.Arg13447Cys | |
| ENST00000359218.10:c.40138C>T (TTN) | ENSP00000352154.5:p.Arg13380Cys | |
| ENST00000342175.10:c.40339C>T (TTN) | ENSP00000340554.6:p.Arg13447Cys | |
| ENST00000342992.10:c.59254C>T (TTN) | ENSP00000343764.6:p.Arg19752Cys | |
| ENST00000359218.9:c.40138C>T (TTN) | ENSP00000352154.5:p.Arg13380Cys | |
| ENST00000460472.6:c.39763C>T (TTN) | ENSP00000434586.1:p.Arg13255Cys | |
| ENST00000589042.5:c.66958C>T (TTN) MANE Select | ENSP00000467141.1:p.Arg22320Cys | |
| ENST00000591111.5:c.62035C>T (TTN) | ENSP00000465570.1:p.Arg20679Cys | |
| ENST00000615779.4:c.62035C>T (TTN) | ENSP00000483597.1:p.Arg20679Cys | |
| NM_001256850.1:c.62035C>T (TTN) | NP_001243779.1:p.Arg20679Cys | |
| NM_001267550.2:c.66958C>T (TTN) MANE Select | NP_001254479.2:p.Arg22320Cys | |
| NM_003319.4:c.39763C>T (TTN) | NP_003310.4:p.Arg13255Cys | |
| NM_133378.4:c.59254C>T (TTN) | NP_596869.4:p.Arg19752Cys | |
| NM_133432.3:c.40138C>T (TTN) | NP_597676.3:p.Arg13380Cys | |
| NM_133437.4:c.40339C>T (TTN) | NP_597681.4:p.Arg13447Cys | |
| NR_038271.1:n.596+8972G>A (TTN-AS1) | ||
| NR_038272.1:n.2044-2151G>A (TTN-AS1) | ||
| XM_011511729.1:c.66055C>T (TTN) | XP_011510031.1:p.Arg22019Cys | |
| XM_011511730.1:c.39949C>T (TTN) | XP_011510032.1:p.Arg13317Cys | |
| XM_011511731.1:c.39808C>T (TTN) | XP_011510033.1:p.Arg13270Cys | |
| XM_017004819.1:c.65851C>T (TTN) | XP_016860308.1:p.Arg21951Cys | |
| XM_017004820.1:c.61249C>T (TTN) | XP_016860309.1:p.Arg20417Cys | |
| XM_017004821.1:c.61246C>T (TTN) | XP_016860310.1:p.Arg20416Cys | |
| XM_017004822.1:c.58288C>T (TTN) | XP_016860311.1:p.Arg19430Cys | |
| XM_017004823.1:c.39904C>T (TTN) | XP_016860312.1:p.Arg13302Cys | |
| XM_024453094.1:c.61399C>T (TTN) | XP_024308862.1:p.Arg20467Cys | |
| XM_024453095.1:c.61396C>T (TTN) | XP_024308863.1:p.Arg20466Cys | |
| XM_024453096.1:c.60829C>T (TTN) | XP_024308864.1:p.Arg20277Cys | |
| XM_024453097.1:c.58171C>T (TTN) | XP_024308865.1:p.Arg19391Cys | |
| XM_024453098.1:c.58090C>T (TTN) | XP_024308866.1:p.Arg19364Cys | |
| XM_024453099.1:c.39853C>T (TTN) | XP_024308867.1:p.Arg13285Cys | |
| XM_024453100.1:c.29707C>T (TTN) | XP_024308868.1:p.Arg9903Cys |