Linked Data
ClinVar Variation Id:
223371
dbSNP Id:
rs775186117
ExAC:
2:179482120 G / A
gnomAD v2:
2-179482120-G-A
gnomAD v4:
2-178617393-G-A
PubMed:
PMID:25589632
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178617393G>A , CM000664.2:g.178617393G>A | GRCh38 |
| NC_000002.11:g.179482120G>A , CM000664.1:g.179482120G>A | GRCh37 |
| NC_000002.10:g.179190365G>A | NCBI36 |
| NG_011618.3:g.218410C>T , LRG_391:g.218410C>T | |
| NG_051363.1:g.99567G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.39988C>T (TTN) | ENSP00000343764.6:p.Arg13330Ter | |
| ENST00000342175.11:c.21073C>T (TTN) | ENSP00000340554.6:p.Arg7025Ter | |
| ENST00000359218.10:c.20872C>T (TTN) | ENSP00000352154.5:p.Arg6958Ter | |
| ENST00000342175.10:c.21073C>T (TTN) | ENSP00000340554.6:p.Arg7025Ter | |
| ENST00000342992.10:c.39988C>T (TTN) | ENSP00000343764.6:p.Arg13330Ter | |
| ENST00000359218.9:c.20872C>T (TTN) | ENSP00000352154.5:p.Arg6958Ter | |
| ENST00000460472.6:c.20497C>T (TTN) | ENSP00000434586.1:p.Arg6833Ter | |
| ENST00000589042.5:c.47692C>T (TTN) MANE Select | ENSP00000467141.1:p.Arg15898Ter | |
| ENST00000591111.5:c.42769C>T (TTN) | ENSP00000465570.1:p.Arg14257Ter | |
| ENST00000615779.4:c.42769C>T (TTN) | ENSP00000483597.1:p.Arg14257Ter | |
| NM_001256850.1:c.42769C>T (TTN) | NP_001243779.1:p.Arg14257Ter | |
| NM_001267550.2:c.47692C>T (TTN) MANE Select | NP_001254479.2:p.Arg15898Ter | |
| NM_003319.4:c.20497C>T (TTN) | NP_003310.4:p.Arg6833Ter | |
| NM_133378.4:c.39988C>T (TTN) | NP_596869.4:p.Arg13330Ter | |
| NM_133432.3:c.20872C>T (TTN) | NP_597676.3:p.Arg6958Ter | |
| NM_133437.4:c.21073C>T (TTN) | NP_597681.4:p.Arg7025Ter | |
| NR_038271.1:n.1604+2019G>A (TTN-AS1) | ||
| XM_011511729.1:c.46789C>T (TTN) | XP_011510031.1:p.Arg15597Ter | |
| XM_011511730.1:c.20683C>T (TTN) | XP_011510032.1:p.Arg6895Ter | |
| XM_011511731.1:c.20542C>T (TTN) | XP_011510033.1:p.Arg6848Ter | |
| XM_017004819.1:c.46585C>T (TTN) | XP_016860308.1:p.Arg15529Ter | |
| XM_017004820.1:c.41983C>T (TTN) | XP_016860309.1:p.Arg13995Ter | |
| XM_017004821.1:c.41980C>T (TTN) | XP_016860310.1:p.Arg13994Ter | |
| XM_017004822.1:c.39022C>T (TTN) | XP_016860311.1:p.Arg13008Ter | |
| XM_017004823.1:c.20638C>T (TTN) | XP_016860312.1:p.Arg6880Ter | |
| XM_024453094.1:c.42133C>T (TTN) | XP_024308862.1:p.Arg14045Ter | |
| XM_024453095.1:c.42130C>T (TTN) | XP_024308863.1:p.Arg14044Ter | |
| XM_024453096.1:c.41563C>T (TTN) | XP_024308864.1:p.Arg13855Ter | |
| XM_024453097.1:c.38905C>T (TTN) | XP_024308865.1:p.Arg12969Ter | |
| XM_024453098.1:c.38824C>T (TTN) | XP_024308866.1:p.Arg12942Ter | |
| XM_024453099.1:c.20587C>T (TTN) | XP_024308867.1:p.Arg6863Ter | |
| XM_024453100.1:c.10441C>T (TTN) | XP_024308868.1:p.Arg3481Ter |