Linked Data
ClinVar Variation Id:
238698
ClinVar RCV Id:
RCV000232973
dbSNP Id:
rs546343124
ExAC:
2:179395281 T / C
gnomAD v2:
2-179395281-T-C
gnomAD v3:
2-178530554-T-C
gnomAD v4:
2-178530554-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178530554T>C , CM000664.2:g.178530554T>C | GRCh38 |
| NC_000002.11:g.179395281T>C , CM000664.1:g.179395281T>C | GRCh37 |
| NC_000002.10:g.179103527T>C | NCBI36 |
| NG_011618.3:g.305249A>G , LRG_391:g.305249A>G | |
| NG_051363.1:g.12728T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.98357A>G (TTN) | ENSP00000343764.6:p.Gln32786Arg | |
| ENST00000342175.11:c.79442A>G (TTN) | ENSP00000340554.6:p.Gln26481Arg | |
| ENST00000359218.10:c.79241A>G (TTN) | ENSP00000352154.5:p.Gln26414Arg | |
| ENST00000342175.10:c.79442A>G (TTN) | ENSP00000340554.6:p.Gln26481Arg | |
| ENST00000342992.10:c.98357A>G (TTN) | ENSP00000343764.6:p.Gln32786Arg | |
| ENST00000359218.9:c.79241A>G (TTN) | ENSP00000352154.5:p.Gln26414Arg | |
| ENST00000460472.6:c.78866A>G (TTN) | ENSP00000434586.1:p.Gln26289Arg | |
| ENST00000589042.5:c.106061A>G (TTN) MANE Select | ENSP00000467141.1:p.Gln35354Arg | |
| ENST00000591111.5:c.101138A>G (TTN) | ENSP00000465570.1:p.Gln33713Arg | |
| ENST00000615779.4:c.101138A>G (TTN) | ENSP00000483597.1:p.Gln33713Arg | |
| NM_001256850.1:c.101138A>G (TTN) | NP_001243779.1:p.Gln33713Arg | |
| NM_001267550.2:c.106061A>G (TTN) MANE Select | NP_001254479.2:p.Gln35354Arg | |
| NM_003319.4:c.78866A>G (TTN) | NP_003310.4:p.Gln26289Arg | |
| NM_133378.4:c.98357A>G (TTN) | NP_596869.4:p.Gln32786Arg | |
| NM_133432.3:c.79241A>G (TTN) | NP_597676.3:p.Gln26414Arg | |
| NM_133437.4:c.79442A>G (TTN) | NP_597681.4:p.Gln26481Arg | |
| NR_038271.1:n.446+6918T>C (TTN-AS1) | ||
| NR_038272.1:n.220-5178T>C (TTN-AS1) | ||
| XM_011511729.1:c.105158A>G (TTN) | XP_011510031.1:p.Gln35053Arg | |
| XM_011511730.1:c.79052A>G (TTN) | XP_011510032.1:p.Gln26351Arg | |
| XM_011511731.1:c.78911A>G (TTN) | XP_011510033.1:p.Gln26304Arg | |
| XM_017004819.1:c.104954A>G (TTN) | XP_016860308.1:p.Gln34985Arg | |
| XM_017004820.1:c.100352A>G (TTN) | XP_016860309.1:p.Gln33451Arg | |
| XM_017004821.1:c.100349A>G (TTN) | XP_016860310.1:p.Gln33450Arg | |
| XM_017004822.1:c.97391A>G (TTN) | XP_016860311.1:p.Gln32464Arg | |
| XM_017004823.1:c.79007A>G (TTN) | XP_016860312.1:p.Gln26336Arg | |
| XM_024453094.1:c.100502A>G (TTN) | XP_024308862.1:p.Gln33501Arg | |
| XM_024453095.1:c.100499A>G (TTN) | XP_024308863.1:p.Gln33500Arg | |
| XM_024453096.1:c.99932A>G (TTN) | XP_024308864.1:p.Gln33311Arg | |
| XM_024453097.1:c.97274A>G (TTN) | XP_024308865.1:p.Gln32425Arg | |
| XM_024453098.1:c.97193A>G (TTN) | XP_024308866.1:p.Gln32398Arg | |
| XM_024453099.1:c.78956A>G (TTN) | XP_024308867.1:p.Gln26319Arg | |
| XM_024453100.1:c.68810A>G (TTN) | XP_024308868.1:p.Gln22937Arg |