Linked Data
ClinVar Variation Id:
332831
ClinVar RCV Id:
RCV000261492
RCV000283675
RCV000323509
RCV000380363
RCV000384286
RCV000841748
RCV002436187
dbSNP Id:
rs772767570
ExAC:
2:179464364 C / T
gnomAD v2:
2-179464364-C-T
gnomAD v3:
2-178599637-C-T
gnomAD v4:
2-178599637-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178599637C>T , CM000664.2:g.178599637C>T | GRCh38 |
| NC_000002.11:g.179464364C>T , CM000664.1:g.179464364C>T | GRCh37 |
| NC_000002.10:g.179172609C>T | NCBI36 |
| NG_011618.3:g.236166G>A , LRG_391:g.236166G>A | |
| NG_051363.1:g.81811C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.48560G>A (TTN) | ENSP00000343764.6:p.Arg16187His | |
| ENST00000342175.11:c.29645G>A (TTN) | ENSP00000340554.6:p.Arg9882His | |
| ENST00000359218.10:c.29444G>A (TTN) | ENSP00000352154.5:p.Arg9815His | |
| ENST00000342175.10:c.29645G>A (TTN) | ENSP00000340554.6:p.Arg9882His | |
| ENST00000342992.10:c.48560G>A (TTN) | ENSP00000343764.6:p.Arg16187His | |
| ENST00000359218.9:c.29444G>A (TTN) | ENSP00000352154.5:p.Arg9815His | |
| ENST00000460472.6:c.29069G>A (TTN) | ENSP00000434586.1:p.Arg9690His | |
| ENST00000589042.5:c.56264G>A (TTN) MANE Select | ENSP00000467141.1:p.Arg18755His | |
| ENST00000591111.5:c.51341G>A (TTN) | ENSP00000465570.1:p.Arg17114His | |
| ENST00000615779.4:c.51341G>A (TTN) | ENSP00000483597.1:p.Arg17114His | |
| NM_001256850.1:c.51341G>A (TTN) | NP_001243779.1:p.Arg17114His | |
| NM_001267550.2:c.56264G>A (TTN) MANE Select | NP_001254479.2:p.Arg18755His | |
| NM_003319.4:c.29069G>A (TTN) | NP_003310.4:p.Arg9690His | |
| NM_133378.4:c.48560G>A (TTN) | NP_596869.4:p.Arg16187His | |
| NM_133432.3:c.29444G>A (TTN) | NP_597676.3:p.Arg9815His | |
| NM_133437.4:c.29645G>A (TTN) | NP_597681.4:p.Arg9882His | |
| NR_038271.1:n.682+1956C>T (TTN-AS1) | ||
| NR_038272.1:n.3612C>T (TTN-AS1) | ||
| XM_011511729.1:c.55361G>A (TTN) | XP_011510031.1:p.Arg18454His | |
| XM_011511730.1:c.29255G>A (TTN) | XP_011510032.1:p.Arg9752His | |
| XM_011511731.1:c.29114G>A (TTN) | XP_011510033.1:p.Arg9705His | |
| XM_017004819.1:c.55157G>A (TTN) | XP_016860308.1:p.Arg18386His | |
| XM_017004820.1:c.50555G>A (TTN) | XP_016860309.1:p.Arg16852His | |
| XM_017004821.1:c.50552G>A (TTN) | XP_016860310.1:p.Arg16851His | |
| XM_017004822.1:c.47594G>A (TTN) | XP_016860311.1:p.Arg15865His | |
| XM_017004823.1:c.29210G>A (TTN) | XP_016860312.1:p.Arg9737His | |
| XM_024453094.1:c.50705G>A (TTN) | XP_024308862.1:p.Arg16902His | |
| XM_024453095.1:c.50702G>A (TTN) | XP_024308863.1:p.Arg16901His | |
| XM_024453096.1:c.50135G>A (TTN) | XP_024308864.1:p.Arg16712His | |
| XM_024453097.1:c.47477G>A (TTN) | XP_024308865.1:p.Arg15826His | |
| XM_024453098.1:c.47396G>A (TTN) | XP_024308866.1:p.Arg15799His | |
| XM_024453099.1:c.29159G>A (TTN) | XP_024308867.1:p.Arg9720His | |
| XM_024453100.1:c.19013G>A (TTN) | XP_024308868.1:p.Arg6338His |