Linked Data
ClinVar Variation Id:
238874
dbSNP Id:
rs774296358
ExAC:
2:179403855 C / T
gnomAD v2:
2-179403855-C-T
gnomAD v3:
2-178539128-C-T
gnomAD v4:
2-178539128-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178539128C>T , CM000664.2:g.178539128C>T | GRCh38 |
| NC_000002.11:g.179403855C>T , CM000664.1:g.179403855C>T | GRCh37 |
| NC_000002.10:g.179112101C>T | NCBI36 |
| NG_011618.3:g.296675G>A , LRG_391:g.296675G>A | |
| NG_051363.1:g.21302C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.91103G>A (TTN) | ENSP00000343764.6:p.Arg30368His | |
| ENST00000342175.11:c.72188G>A (TTN) | ENSP00000340554.6:p.Arg24063His | |
| ENST00000359218.10:c.71987G>A (TTN) | ENSP00000352154.5:p.Arg23996His | |
| ENST00000342175.10:c.72188G>A (TTN) | ENSP00000340554.6:p.Arg24063His | |
| ENST00000342992.10:c.91103G>A (TTN) | ENSP00000343764.6:p.Arg30368His | |
| ENST00000359218.9:c.71987G>A (TTN) | ENSP00000352154.5:p.Arg23996His | |
| ENST00000460472.6:c.71612G>A (TTN) | ENSP00000434586.1:p.Arg23871His | |
| ENST00000589042.5:c.98807G>A (TTN) MANE Select | ENSP00000467141.1:p.Arg32936His | |
| ENST00000591111.5:c.93884G>A (TTN) | ENSP00000465570.1:p.Arg31295His | |
| ENST00000615779.4:c.93884G>A (TTN) | ENSP00000483597.1:p.Arg31295His | |
| NM_001256850.1:c.93884G>A (TTN) | NP_001243779.1:p.Arg31295His | |
| NM_001267550.2:c.98807G>A (TTN) MANE Select | NP_001254479.2:p.Arg32936His | |
| NM_003319.4:c.71612G>A (TTN) | NP_003310.4:p.Arg23871His | |
| NM_133378.4:c.91103G>A (TTN) | NP_596869.4:p.Arg30368His | |
| NM_133432.3:c.71987G>A (TTN) | NP_597676.3:p.Arg23996His | |
| NM_133437.4:c.72188G>A (TTN) | NP_597681.4:p.Arg24063His | |
| NR_038271.1:n.446+15492C>T (TTN-AS1) | ||
| NR_038272.1:n.1078C>T (TTN-AS1) | ||
| XM_011511729.1:c.97904G>A (TTN) | XP_011510031.1:p.Arg32635His | |
| XM_011511730.1:c.71798G>A (TTN) | XP_011510032.1:p.Arg23933His | |
| XM_011511731.1:c.71657G>A (TTN) | XP_011510033.1:p.Arg23886His | |
| XM_017004819.1:c.97700G>A (TTN) | XP_016860308.1:p.Arg32567His | |
| XM_017004820.1:c.93098G>A (TTN) | XP_016860309.1:p.Arg31033His | |
| XM_017004821.1:c.93095G>A (TTN) | XP_016860310.1:p.Arg31032His | |
| XM_017004822.1:c.90137G>A (TTN) | XP_016860311.1:p.Arg30046His | |
| XM_017004823.1:c.71753G>A (TTN) | XP_016860312.1:p.Arg23918His | |
| XM_024453094.1:c.93248G>A (TTN) | XP_024308862.1:p.Arg31083His | |
| XM_024453095.1:c.93245G>A (TTN) | XP_024308863.1:p.Arg31082His | |
| XM_024453096.1:c.92678G>A (TTN) | XP_024308864.1:p.Arg30893His | |
| XM_024453097.1:c.90020G>A (TTN) | XP_024308865.1:p.Arg30007His | |
| XM_024453098.1:c.89939G>A (TTN) | XP_024308866.1:p.Arg29980His | |
| XM_024453099.1:c.71702G>A (TTN) | XP_024308867.1:p.Arg23901His | |
| XM_024453100.1:c.61556G>A (TTN) | XP_024308868.1:p.Arg20519His |