Linked Data
ClinVar Variation Id:
504986
dbSNP Id:
rs974671846
gnomAD v3:
2-178592211-C-T
gnomAD v4:
2-178592211-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178592211C>T , CM000664.2:g.178592211C>T | GRCh38 |
| NC_000002.11:g.179456938C>T , CM000664.1:g.179456938C>T | GRCh37 |
| NC_000002.10:g.179165184C>T | NCBI36 |
| NG_011618.3:g.243592G>A , LRG_391:g.243592G>A | |
| NG_051363.1:g.74385C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.51989G>A (TTN) | ENSP00000343764.6:p.Trp17330Ter | |
| ENST00000342175.11:c.33074G>A (TTN) | ENSP00000340554.6:p.Trp11025Ter | |
| ENST00000359218.10:c.32873G>A (TTN) | ENSP00000352154.5:p.Trp10958Ter | |
| ENST00000342175.10:c.33074G>A (TTN) | ENSP00000340554.6:p.Trp11025Ter | |
| ENST00000342992.10:c.51989G>A (TTN) | ENSP00000343764.6:p.Trp17330Ter | |
| ENST00000359218.9:c.32873G>A (TTN) | ENSP00000352154.5:p.Trp10958Ter | |
| ENST00000460472.6:c.32498G>A (TTN) | ENSP00000434586.1:p.Trp10833Ter | |
| ENST00000589042.5:c.59693G>A (TTN) MANE Select | ENSP00000467141.1:p.Trp19898Ter | |
| ENST00000591111.5:c.54770G>A (TTN) | ENSP00000465570.1:p.Trp18257Ter | |
| ENST00000615779.4:c.54770G>A (TTN) | ENSP00000483597.1:p.Trp18257Ter | |
| NM_001256850.1:c.54770G>A (TTN) | NP_001243779.1:p.Trp18257Ter | |
| NM_001267550.2:c.59693G>A (TTN) MANE Select | NP_001254479.2:p.Trp19898Ter | |
| NM_003319.4:c.32498G>A (TTN) | NP_003310.4:p.Trp10833Ter | |
| NM_133378.4:c.51989G>A (TTN) | NP_596869.4:p.Trp17330Ter | |
| NM_133432.3:c.32873G>A (TTN) | NP_597676.3:p.Trp10958Ter | |
| NM_133437.4:c.33074G>A (TTN) | NP_597681.4:p.Trp11025Ter | |
| NR_038271.1:n.597-5385C>T (TTN-AS1) | ||
| NR_038272.1:n.3364+897C>T (TTN-AS1) | ||
| XM_011511729.1:c.58790G>A (TTN) | XP_011510031.1:p.Trp19597Ter | |
| XM_011511730.1:c.32684G>A (TTN) | XP_011510032.1:p.Trp10895Ter | |
| XM_011511731.1:c.32543G>A (TTN) | XP_011510033.1:p.Trp10848Ter | |
| XM_017004819.1:c.58586G>A (TTN) | XP_016860308.1:p.Trp19529Ter | |
| XM_017004820.1:c.53984G>A (TTN) | XP_016860309.1:p.Trp17995Ter | |
| XM_017004821.1:c.53981G>A (TTN) | XP_016860310.1:p.Trp17994Ter | |
| XM_017004822.1:c.51023G>A (TTN) | XP_016860311.1:p.Trp17008Ter | |
| XM_017004823.1:c.32639G>A (TTN) | XP_016860312.1:p.Trp10880Ter | |
| XM_024453094.1:c.54134G>A (TTN) | XP_024308862.1:p.Trp18045Ter | |
| XM_024453095.1:c.54131G>A (TTN) | XP_024308863.1:p.Trp18044Ter | |
| XM_024453096.1:c.53564G>A (TTN) | XP_024308864.1:p.Trp17855Ter | |
| XM_024453097.1:c.50906G>A (TTN) | XP_024308865.1:p.Trp16969Ter | |
| XM_024453098.1:c.50825G>A (TTN) | XP_024308866.1:p.Trp16942Ter | |
| XM_024453099.1:c.32588G>A (TTN) | XP_024308867.1:p.Trp10863Ter | |
| XM_024453100.1:c.22442G>A (TTN) | XP_024308868.1:p.Trp7481Ter |