Linked Data
ClinVar Variation Id:
263721
dbSNP Id:
rs374914334
ExAC:
2:179456782 C / T
gnomAD v2:
2-179456782-C-T
gnomAD v3:
2-178592055-C-T
gnomAD v4:
2-178592055-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178592055C>T , CM000664.2:g.178592055C>T | GRCh38 |
| NC_000002.11:g.179456782C>T , CM000664.1:g.179456782C>T | GRCh37 |
| NC_000002.10:g.179165028C>T | NCBI36 |
| NG_011618.3:g.243748G>A , LRG_391:g.243748G>A | |
| NG_051363.1:g.74229C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.52145G>A (TTN) | ENSP00000343764.6:p.Arg17382Gln | |
| ENST00000342175.11:c.33230G>A (TTN) | ENSP00000340554.6:p.Arg11077Gln | |
| ENST00000359218.10:c.33029G>A (TTN) | ENSP00000352154.5:p.Arg11010Gln | |
| ENST00000342175.10:c.33230G>A (TTN) | ENSP00000340554.6:p.Arg11077Gln | |
| ENST00000342992.10:c.52145G>A (TTN) | ENSP00000343764.6:p.Arg17382Gln | |
| ENST00000359218.9:c.33029G>A (TTN) | ENSP00000352154.5:p.Arg11010Gln | |
| ENST00000460472.6:c.32654G>A (TTN) | ENSP00000434586.1:p.Arg10885Gln | |
| ENST00000589042.5:c.59849G>A (TTN) MANE Select | ENSP00000467141.1:p.Arg19950Gln | |
| ENST00000591111.5:c.54926G>A (TTN) | ENSP00000465570.1:p.Arg18309Gln | |
| ENST00000615779.4:c.54926G>A (TTN) | ENSP00000483597.1:p.Arg18309Gln | |
| NM_001256850.1:c.54926G>A (TTN) | NP_001243779.1:p.Arg18309Gln | |
| NM_001267550.2:c.59849G>A (TTN) MANE Select | NP_001254479.2:p.Arg19950Gln | |
| NM_003319.4:c.32654G>A (TTN) | NP_003310.4:p.Arg10885Gln | |
| NM_133378.4:c.52145G>A (TTN) | NP_596869.4:p.Arg17382Gln | |
| NM_133432.3:c.33029G>A (TTN) | NP_597676.3:p.Arg11010Gln | |
| NM_133437.4:c.33230G>A (TTN) | NP_597681.4:p.Arg11077Gln | |
| NR_038271.1:n.597-5541C>T (TTN-AS1) | ||
| NR_038272.1:n.3364+741C>T (TTN-AS1) | ||
| XM_011511729.1:c.58946G>A (TTN) | XP_011510031.1:p.Arg19649Gln | |
| XM_011511730.1:c.32840G>A (TTN) | XP_011510032.1:p.Arg10947Gln | |
| XM_011511731.1:c.32699G>A (TTN) | XP_011510033.1:p.Arg10900Gln | |
| XM_017004819.1:c.58742G>A (TTN) | XP_016860308.1:p.Arg19581Gln | |
| XM_017004820.1:c.54140G>A (TTN) | XP_016860309.1:p.Arg18047Gln | |
| XM_017004821.1:c.54137G>A (TTN) | XP_016860310.1:p.Arg18046Gln | |
| XM_017004822.1:c.51179G>A (TTN) | XP_016860311.1:p.Arg17060Gln | |
| XM_017004823.1:c.32795G>A (TTN) | XP_016860312.1:p.Arg10932Gln | |
| XM_024453094.1:c.54290G>A (TTN) | XP_024308862.1:p.Arg18097Gln | |
| XM_024453095.1:c.54287G>A (TTN) | XP_024308863.1:p.Arg18096Gln | |
| XM_024453096.1:c.53720G>A (TTN) | XP_024308864.1:p.Arg17907Gln | |
| XM_024453097.1:c.51062G>A (TTN) | XP_024308865.1:p.Arg17021Gln | |
| XM_024453098.1:c.50981G>A (TTN) | XP_024308866.1:p.Arg16994Gln | |
| XM_024453099.1:c.32744G>A (TTN) | XP_024308867.1:p.Arg10915Gln | |
| XM_024453100.1:c.22598G>A (TTN) | XP_024308868.1:p.Arg7533Gln |