Linked Data
ClinVar Variation Id:
290711
dbSNP Id:
rs376278449
ExAC:
2:179482119 C / T
gnomAD v2:
2-179482119-C-T
gnomAD v3:
2-178617392-C-T
gnomAD v4:
2-178617392-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178617392C>T , CM000664.2:g.178617392C>T | GRCh38 |
| NC_000002.11:g.179482119C>T , CM000664.1:g.179482119C>T | GRCh37 |
| NC_000002.10:g.179190364C>T | NCBI36 |
| NG_011618.3:g.218411G>A , LRG_391:g.218411G>A | |
| NG_051363.1:g.99566C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.39989G>A (TTN) | ENSP00000343764.6:p.Arg13330Gln | |
| ENST00000342175.11:c.21074G>A (TTN) | ENSP00000340554.6:p.Arg7025Gln | |
| ENST00000359218.10:c.20873G>A (TTN) | ENSP00000352154.5:p.Arg6958Gln | |
| ENST00000342175.10:c.21074G>A (TTN) | ENSP00000340554.6:p.Arg7025Gln | |
| ENST00000342992.10:c.39989G>A (TTN) | ENSP00000343764.6:p.Arg13330Gln | |
| ENST00000359218.9:c.20873G>A (TTN) | ENSP00000352154.5:p.Arg6958Gln | |
| ENST00000460472.6:c.20498G>A (TTN) | ENSP00000434586.1:p.Arg6833Gln | |
| ENST00000589042.5:c.47693G>A (TTN) MANE Select | ENSP00000467141.1:p.Arg15898Gln | |
| ENST00000591111.5:c.42770G>A (TTN) | ENSP00000465570.1:p.Arg14257Gln | |
| ENST00000615779.4:c.42770G>A (TTN) | ENSP00000483597.1:p.Arg14257Gln | |
| NM_001256850.1:c.42770G>A (TTN) | NP_001243779.1:p.Arg14257Gln | |
| NM_001267550.2:c.47693G>A (TTN) MANE Select | NP_001254479.2:p.Arg15898Gln | |
| NM_003319.4:c.20498G>A (TTN) | NP_003310.4:p.Arg6833Gln | |
| NM_133378.4:c.39989G>A (TTN) | NP_596869.4:p.Arg13330Gln | |
| NM_133432.3:c.20873G>A (TTN) | NP_597676.3:p.Arg6958Gln | |
| NM_133437.4:c.21074G>A (TTN) | NP_597681.4:p.Arg7025Gln | |
| NR_038271.1:n.1604+2018C>T (TTN-AS1) | ||
| XM_011511729.1:c.46790G>A (TTN) | XP_011510031.1:p.Arg15597Gln | |
| XM_011511730.1:c.20684G>A (TTN) | XP_011510032.1:p.Arg6895Gln | |
| XM_011511731.1:c.20543G>A (TTN) | XP_011510033.1:p.Arg6848Gln | |
| XM_017004819.1:c.46586G>A (TTN) | XP_016860308.1:p.Arg15529Gln | |
| XM_017004820.1:c.41984G>A (TTN) | XP_016860309.1:p.Arg13995Gln | |
| XM_017004821.1:c.41981G>A (TTN) | XP_016860310.1:p.Arg13994Gln | |
| XM_017004822.1:c.39023G>A (TTN) | XP_016860311.1:p.Arg13008Gln | |
| XM_017004823.1:c.20639G>A (TTN) | XP_016860312.1:p.Arg6880Gln | |
| XM_024453094.1:c.42134G>A (TTN) | XP_024308862.1:p.Arg14045Gln | |
| XM_024453095.1:c.42131G>A (TTN) | XP_024308863.1:p.Arg14044Gln | |
| XM_024453096.1:c.41564G>A (TTN) | XP_024308864.1:p.Arg13855Gln | |
| XM_024453097.1:c.38906G>A (TTN) | XP_024308865.1:p.Arg12969Gln | |
| XM_024453098.1:c.38825G>A (TTN) | XP_024308866.1:p.Arg12942Gln | |
| XM_024453099.1:c.20588G>A (TTN) | XP_024308867.1:p.Arg6863Gln | |
| XM_024453100.1:c.10442G>A (TTN) | XP_024308868.1:p.Arg3481Gln |