Linked Data
dbSNP Id:
rs767718233
ExAC:
2:179435287 C / A
gnomAD v2:
2-179435287-C-A
gnomAD v4:
2-178570560-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178570560C>A , CM000664.2:g.178570560C>A | GRCh38 |
| NC_000002.11:g.179435287C>A , CM000664.1:g.179435287C>A | GRCh37 |
| NC_000002.10:g.179143533C>A | NCBI36 |
| NG_011618.3:g.265243G>T , LRG_391:g.265243G>T | |
| NG_051363.1:g.52734C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.67868G>T (TTN) | ENSP00000343764.6:p.Gly22623Val | |
| ENST00000342175.11:c.48953G>T (TTN) | ENSP00000340554.6:p.Gly16318Val | |
| ENST00000359218.10:c.48752G>T (TTN) | ENSP00000352154.5:p.Gly16251Val | |
| ENST00000342175.10:c.48953G>T (TTN) | ENSP00000340554.6:p.Gly16318Val | |
| ENST00000342992.10:c.67868G>T (TTN) | ENSP00000343764.6:p.Gly22623Val | |
| ENST00000359218.9:c.48752G>T (TTN) | ENSP00000352154.5:p.Gly16251Val | |
| ENST00000460472.6:c.48377G>T (TTN) | ENSP00000434586.1:p.Gly16126Val | |
| ENST00000589042.5:c.75572G>T (TTN) MANE Select | ENSP00000467141.1:p.Gly25191Val | |
| ENST00000591111.5:c.70649G>T (TTN) | ENSP00000465570.1:p.Gly23550Val | |
| ENST00000615779.4:c.70649G>T (TTN) | ENSP00000483597.1:p.Gly23550Val | |
| NM_001256850.1:c.70649G>T (TTN) | NP_001243779.1:p.Gly23550Val | |
| NM_001267550.2:c.75572G>T (TTN) MANE Select | NP_001254479.2:p.Gly25191Val | |
| NM_003319.4:c.48377G>T (TTN) | NP_003310.4:p.Gly16126Val | |
| NM_133378.4:c.67868G>T (TTN) | NP_596869.4:p.Gly22623Val | |
| NM_133432.3:c.48752G>T (TTN) | NP_597676.3:p.Gly16251Val | |
| NM_133437.4:c.48953G>T (TTN) | NP_597681.4:p.Gly16318Val | |
| NR_038271.1:n.447-740C>A (TTN-AS1) | ||
| NR_038272.1:n.2044-12012C>A (TTN-AS1) | ||
| XM_011511729.1:c.74669G>T (TTN) | XP_011510031.1:p.Gly24890Val | |
| XM_011511730.1:c.48563G>T (TTN) | XP_011510032.1:p.Gly16188Val | |
| XM_011511731.1:c.48422G>T (TTN) | XP_011510033.1:p.Gly16141Val | |
| XM_017004819.1:c.74465G>T (TTN) | XP_016860308.1:p.Gly24822Val | |
| XM_017004820.1:c.69863G>T (TTN) | XP_016860309.1:p.Gly23288Val | |
| XM_017004821.1:c.69860G>T (TTN) | XP_016860310.1:p.Gly23287Val | |
| XM_017004822.1:c.66902G>T (TTN) | XP_016860311.1:p.Gly22301Val | |
| XM_017004823.1:c.48518G>T (TTN) | XP_016860312.1:p.Gly16173Val | |
| XM_024453094.1:c.70013G>T (TTN) | XP_024308862.1:p.Gly23338Val | |
| XM_024453095.1:c.70010G>T (TTN) | XP_024308863.1:p.Gly23337Val | |
| XM_024453096.1:c.69443G>T (TTN) | XP_024308864.1:p.Gly23148Val | |
| XM_024453097.1:c.66785G>T (TTN) | XP_024308865.1:p.Gly22262Val | |
| XM_024453098.1:c.66704G>T (TTN) | XP_024308866.1:p.Gly22235Val | |
| XM_024453099.1:c.48467G>T (TTN) | XP_024308867.1:p.Gly16156Val | |
| XM_024453100.1:c.38321G>T (TTN) | XP_024308868.1:p.Gly12774Val |