Linked Data
ClinVar Variation Id:
467538
dbSNP Id:
rs371910831
ExAC:
2:179429212 C / T
gnomAD v2:
2-179429212-C-T
gnomAD v3:
2-178564485-C-T
gnomAD v4:
2-178564485-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178564485C>T , CM000664.2:g.178564485C>T | GRCh38 |
| NC_000002.11:g.179429212C>T , CM000664.1:g.179429212C>T | GRCh37 |
| NC_000002.10:g.179137458C>T | NCBI36 |
| NG_011618.3:g.271318G>A , LRG_391:g.271318G>A | |
| NG_051363.1:g.46659C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.73943G>A (TTN) | ENSP00000343764.6:p.Arg24648His | |
| ENST00000342175.11:c.55028G>A (TTN) | ENSP00000340554.6:p.Arg18343His | |
| ENST00000359218.10:c.54827G>A (TTN) | ENSP00000352154.5:p.Arg18276His | |
| ENST00000342175.10:c.55028G>A (TTN) | ENSP00000340554.6:p.Arg18343His | |
| ENST00000342992.10:c.73943G>A (TTN) | ENSP00000343764.6:p.Arg24648His | |
| ENST00000359218.9:c.54827G>A (TTN) | ENSP00000352154.5:p.Arg18276His | |
| ENST00000460472.6:c.54452G>A (TTN) | ENSP00000434586.1:p.Arg18151His | |
| ENST00000589042.5:c.81647G>A (TTN) MANE Select | ENSP00000467141.1:p.Arg27216His | |
| ENST00000591111.5:c.76724G>A (TTN) | ENSP00000465570.1:p.Arg25575His | |
| ENST00000615779.4:c.76724G>A (TTN) | ENSP00000483597.1:p.Arg25575His | |
| NM_001256850.1:c.76724G>A (TTN) | NP_001243779.1:p.Arg25575His | |
| NM_001267550.2:c.81647G>A (TTN) MANE Select | NP_001254479.2:p.Arg27216His | |
| NM_003319.4:c.54452G>A (TTN) | NP_003310.4:p.Arg18151His | |
| NM_133378.4:c.73943G>A (TTN) | NP_596869.4:p.Arg24648His | |
| NM_133432.3:c.54827G>A (TTN) | NP_597676.3:p.Arg18276His | |
| NM_133437.4:c.55028G>A (TTN) | NP_597681.4:p.Arg18343His | |
| NR_038271.1:n.447-6815C>T (TTN-AS1) | ||
| NR_038272.1:n.2044-18087C>T (TTN-AS1) | ||
| XM_011511729.1:c.80744G>A (TTN) | XP_011510031.1:p.Arg26915His | |
| XM_011511730.1:c.54638G>A (TTN) | XP_011510032.1:p.Arg18213His | |
| XM_011511731.1:c.54497G>A (TTN) | XP_011510033.1:p.Arg18166His | |
| XM_017004819.1:c.80540G>A (TTN) | XP_016860308.1:p.Arg26847His | |
| XM_017004820.1:c.75938G>A (TTN) | XP_016860309.1:p.Arg25313His | |
| XM_017004821.1:c.75935G>A (TTN) | XP_016860310.1:p.Arg25312His | |
| XM_017004822.1:c.72977G>A (TTN) | XP_016860311.1:p.Arg24326His | |
| XM_017004823.1:c.54593G>A (TTN) | XP_016860312.1:p.Arg18198His | |
| XM_024453094.1:c.76088G>A (TTN) | XP_024308862.1:p.Arg25363His | |
| XM_024453095.1:c.76085G>A (TTN) | XP_024308863.1:p.Arg25362His | |
| XM_024453096.1:c.75518G>A (TTN) | XP_024308864.1:p.Arg25173His | |
| XM_024453097.1:c.72860G>A (TTN) | XP_024308865.1:p.Arg24287His | |
| XM_024453098.1:c.72779G>A (TTN) | XP_024308866.1:p.Arg24260His | |
| XM_024453099.1:c.54542G>A (TTN) | XP_024308867.1:p.Arg18181His | |
| XM_024453100.1:c.44396G>A (TTN) | XP_024308868.1:p.Arg14799His |