Linked Data
ClinVar Variation Id:
179044
ClinVar RCV Id:
RCV000155828
RCV000469678
RCV001133875
RCV001130904
RCV001130905
RCV001130906
RCV001130907
RCV001293204
RCV002453519
RCV003137672
dbSNP Id:
rs372267046
ExAC:
2:179452458 C / T
gnomAD v2:
2-179452458-C-T
gnomAD v3:
2-178587731-C-T
gnomAD v4:
2-178587731-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178587731C>T , CM000664.2:g.178587731C>T | GRCh38 |
| NC_000002.11:g.179452458C>T , CM000664.1:g.179452458C>T | GRCh37 |
| NC_000002.10:g.179160704C>T | NCBI36 |
| NG_011618.3:g.248072G>A , LRG_391:g.248072G>A | |
| NG_051363.1:g.69905C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.55874G>A (TTN) | ENSP00000343764.6:p.Arg18625His | |
| ENST00000342175.11:c.36959G>A (TTN) | ENSP00000340554.6:p.Arg12320His | |
| ENST00000359218.10:c.36758G>A (TTN) | ENSP00000352154.5:p.Arg12253His | |
| ENST00000342175.10:c.36959G>A (TTN) | ENSP00000340554.6:p.Arg12320His | |
| ENST00000342992.10:c.55874G>A (TTN) | ENSP00000343764.6:p.Arg18625His | |
| ENST00000359218.9:c.36758G>A (TTN) | ENSP00000352154.5:p.Arg12253His | |
| ENST00000460472.6:c.36383G>A (TTN) | ENSP00000434586.1:p.Arg12128His | |
| ENST00000589042.5:c.63578G>A (TTN) MANE Select | ENSP00000467141.1:p.Arg21193His | |
| ENST00000591111.5:c.58655G>A (TTN) | ENSP00000465570.1:p.Arg19552His | |
| ENST00000615779.4:c.58655G>A (TTN) | ENSP00000483597.1:p.Arg19552His | |
| NM_001256850.1:c.58655G>A (TTN) | NP_001243779.1:p.Arg19552His | |
| NM_001267550.2:c.63578G>A (TTN) MANE Select | NP_001254479.2:p.Arg21193His | |
| NM_003319.4:c.36383G>A (TTN) | NP_003310.4:p.Arg12128His | |
| NM_133378.4:c.55874G>A (TTN) | NP_596869.4:p.Arg18625His | |
| NM_133432.3:c.36758G>A (TTN) | NP_597676.3:p.Arg12253His | |
| NM_133437.4:c.36959G>A (TTN) | NP_597681.4:p.Arg12320His | |
| NR_038271.1:n.597-9865C>T (TTN-AS1) | ||
| NR_038272.1:n.3188+2738C>T (TTN-AS1) | ||
| XM_011511729.1:c.62675G>A (TTN) | XP_011510031.1:p.Arg20892His | |
| XM_011511730.1:c.36569G>A (TTN) | XP_011510032.1:p.Arg12190His | |
| XM_011511731.1:c.36428G>A (TTN) | XP_011510033.1:p.Arg12143His | |
| XM_017004819.1:c.62471G>A (TTN) | XP_016860308.1:p.Arg20824His | |
| XM_017004820.1:c.57869G>A (TTN) | XP_016860309.1:p.Arg19290His | |
| XM_017004821.1:c.57866G>A (TTN) | XP_016860310.1:p.Arg19289His | |
| XM_017004822.1:c.54908G>A (TTN) | XP_016860311.1:p.Arg18303His | |
| XM_017004823.1:c.36524G>A (TTN) | XP_016860312.1:p.Arg12175His | |
| XM_024453094.1:c.58019G>A (TTN) | XP_024308862.1:p.Arg19340His | |
| XM_024453095.1:c.58016G>A (TTN) | XP_024308863.1:p.Arg19339His | |
| XM_024453096.1:c.57449G>A (TTN) | XP_024308864.1:p.Arg19150His | |
| XM_024453097.1:c.54791G>A (TTN) | XP_024308865.1:p.Arg18264His | |
| XM_024453098.1:c.54710G>A (TTN) | XP_024308866.1:p.Arg18237His | |
| XM_024453099.1:c.36473G>A (TTN) | XP_024308867.1:p.Arg12158His | |
| XM_024453100.1:c.26327G>A (TTN) | XP_024308868.1:p.Arg8776His |