Linked Data
ClinVar Variation Id:
202994
ClinVar RCV Id:
RCV000302003
RCV000360124
RCV000356493
RCV000399391
RCV000305405
RCV001086637
RCV000725160
RCV002362961
dbSNP Id:
rs72648251
ExAC:
2:179412829 C / T
gnomAD v2:
2-179412829-C-T
gnomAD v3:
2-178548102-C-T
gnomAD v4:
2-178548102-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178548102C>T , CM000664.2:g.178548102C>T | GRCh38 |
| NC_000002.11:g.179412829C>T , CM000664.1:g.179412829C>T | GRCh37 |
| NC_000002.10:g.179121075C>T | NCBI36 |
| NG_011618.3:g.287701G>A , LRG_391:g.287701G>A | |
| NG_051363.1:g.30276C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.85820G>A (TTN) | ENSP00000343764.6:p.Arg28607His | |
| ENST00000342175.11:c.66905G>A (TTN) | ENSP00000340554.6:p.Arg22302His | |
| ENST00000359218.10:c.66704G>A (TTN) | ENSP00000352154.5:p.Arg22235His | |
| ENST00000342175.10:c.66905G>A (TTN) | ENSP00000340554.6:p.Arg22302His | |
| ENST00000342992.10:c.85820G>A (TTN) | ENSP00000343764.6:p.Arg28607His | |
| ENST00000359218.9:c.66704G>A (TTN) | ENSP00000352154.5:p.Arg22235His | |
| ENST00000460472.6:c.66329G>A (TTN) | ENSP00000434586.1:p.Arg22110His | |
| ENST00000589042.5:c.93524G>A (TTN) MANE Select | ENSP00000467141.1:p.Arg31175His | |
| ENST00000591111.5:c.88601G>A (TTN) | ENSP00000465570.1:p.Arg29534His | |
| ENST00000615779.4:c.88601G>A (TTN) | ENSP00000483597.1:p.Arg29534His | |
| NM_001256850.1:c.88601G>A (TTN) | NP_001243779.1:p.Arg29534His | |
| NM_001267550.2:c.93524G>A (TTN) MANE Select | NP_001254479.2:p.Arg31175His | |
| NM_003319.4:c.66329G>A (TTN) | NP_003310.4:p.Arg22110His | |
| NM_133378.4:c.85820G>A (TTN) | NP_596869.4:p.Arg28607His | |
| NM_133432.3:c.66704G>A (TTN) | NP_597676.3:p.Arg22235His | |
| NM_133437.4:c.66905G>A (TTN) | NP_597681.4:p.Arg22302His | |
| NR_038271.1:n.447-23198C>T (TTN-AS1) | ||
| NR_038272.1:n.2043+5741C>T (TTN-AS1) | ||
| XM_011511729.1:c.92621G>A (TTN) | XP_011510031.1:p.Arg30874His | |
| XM_011511730.1:c.66515G>A (TTN) | XP_011510032.1:p.Arg22172His | |
| XM_011511731.1:c.66374G>A (TTN) | XP_011510033.1:p.Arg22125His | |
| XM_017004819.1:c.92417G>A (TTN) | XP_016860308.1:p.Arg30806His | |
| XM_017004820.1:c.87815G>A (TTN) | XP_016860309.1:p.Arg29272His | |
| XM_017004821.1:c.87812G>A (TTN) | XP_016860310.1:p.Arg29271His | |
| XM_017004822.1:c.84854G>A (TTN) | XP_016860311.1:p.Arg28285His | |
| XM_017004823.1:c.66470G>A (TTN) | XP_016860312.1:p.Arg22157His | |
| XM_024453094.1:c.87965G>A (TTN) | XP_024308862.1:p.Arg29322His | |
| XM_024453095.1:c.87962G>A (TTN) | XP_024308863.1:p.Arg29321His | |
| XM_024453096.1:c.87395G>A (TTN) | XP_024308864.1:p.Arg29132His | |
| XM_024453097.1:c.84737G>A (TTN) | XP_024308865.1:p.Arg28246His | |
| XM_024453098.1:c.84656G>A (TTN) | XP_024308866.1:p.Arg28219His | |
| XM_024453099.1:c.66419G>A (TTN) | XP_024308867.1:p.Arg22140His | |
| XM_024453100.1:c.56273G>A (TTN) | XP_024308868.1:p.Arg18758His |