Linked Data
ClinVar Variation Id:
332796
dbSNP Id:
rs372496072
ExAC:
2:179442792 C / T
gnomAD v2:
2-179442792-C-T
gnomAD v3:
2-178578065-C-T
gnomAD v4:
2-178578065-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178578065C>T , CM000664.2:g.178578065C>T | GRCh38 |
| NC_000002.11:g.179442792C>T , CM000664.1:g.179442792C>T | GRCh37 |
| NC_000002.10:g.179151038C>T | NCBI36 |
| NG_011618.3:g.257738G>A , LRG_391:g.257738G>A | |
| NG_051363.1:g.60239C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.60746G>A (TTN) | ENSP00000343764.6:p.Arg20249Gln | |
| ENST00000342175.11:c.41831G>A (TTN) | ENSP00000340554.6:p.Arg13944Gln | |
| ENST00000359218.10:c.41630G>A (TTN) | ENSP00000352154.5:p.Arg13877Gln | |
| ENST00000342175.10:c.41831G>A (TTN) | ENSP00000340554.6:p.Arg13944Gln | |
| ENST00000342992.10:c.60746G>A (TTN) | ENSP00000343764.6:p.Arg20249Gln | |
| ENST00000359218.9:c.41630G>A (TTN) | ENSP00000352154.5:p.Arg13877Gln | |
| ENST00000460472.6:c.41255G>A (TTN) | ENSP00000434586.1:p.Arg13752Gln | |
| ENST00000589042.5:c.68450G>A (TTN) MANE Select | ENSP00000467141.1:p.Arg22817Gln | |
| ENST00000591111.5:c.63527G>A (TTN) | ENSP00000465570.1:p.Arg21176Gln | |
| ENST00000615779.4:c.63527G>A (TTN) | ENSP00000483597.1:p.Arg21176Gln | |
| NM_001256850.1:c.63527G>A (TTN) | NP_001243779.1:p.Arg21176Gln | |
| NM_001267550.2:c.68450G>A (TTN) MANE Select | NP_001254479.2:p.Arg22817Gln | |
| NM_003319.4:c.41255G>A (TTN) | NP_003310.4:p.Arg13752Gln | |
| NM_133378.4:c.60746G>A (TTN) | NP_596869.4:p.Arg20249Gln | |
| NM_133432.3:c.41630G>A (TTN) | NP_597676.3:p.Arg13877Gln | |
| NM_133437.4:c.41831G>A (TTN) | NP_597681.4:p.Arg13944Gln | |
| NR_038271.1:n.596+6616C>T (TTN-AS1) | ||
| NR_038272.1:n.2044-4507C>T (TTN-AS1) | ||
| XM_011511729.1:c.67547G>A (TTN) | XP_011510031.1:p.Arg22516Gln | |
| XM_011511730.1:c.41441G>A (TTN) | XP_011510032.1:p.Arg13814Gln | |
| XM_011511731.1:c.41300G>A (TTN) | XP_011510033.1:p.Arg13767Gln | |
| XM_017004819.1:c.67343G>A (TTN) | XP_016860308.1:p.Arg22448Gln | |
| XM_017004820.1:c.62741G>A (TTN) | XP_016860309.1:p.Arg20914Gln | |
| XM_017004821.1:c.62738G>A (TTN) | XP_016860310.1:p.Arg20913Gln | |
| XM_017004822.1:c.59780G>A (TTN) | XP_016860311.1:p.Arg19927Gln | |
| XM_017004823.1:c.41396G>A (TTN) | XP_016860312.1:p.Arg13799Gln | |
| XM_024453094.1:c.62891G>A (TTN) | XP_024308862.1:p.Arg20964Gln | |
| XM_024453095.1:c.62888G>A (TTN) | XP_024308863.1:p.Arg20963Gln | |
| XM_024453096.1:c.62321G>A (TTN) | XP_024308864.1:p.Arg20774Gln | |
| XM_024453097.1:c.59663G>A (TTN) | XP_024308865.1:p.Arg19888Gln | |
| XM_024453098.1:c.59582G>A (TTN) | XP_024308866.1:p.Arg19861Gln | |
| XM_024453099.1:c.41345G>A (TTN) | XP_024308867.1:p.Arg13782Gln | |
| XM_024453100.1:c.31199G>A (TTN) | XP_024308868.1:p.Arg10400Gln |