Linked Data
ClinVar Variation Id:
47301
ClinVar RCV Id:
RCV000184258
RCV000208052
RCV000542963
RCV000623243
RCV000768934
RCV003448251
RCV002326756
RCV002490565
RCV003152675
dbSNP Id:
rs397517689
gnomAD v2:
2-179439257-G-A
gnomAD v4:
2-178574530-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178574530G>A , CM000664.2:g.178574530G>A | GRCh38 |
| NC_000002.11:g.179439257G>A , CM000664.1:g.179439257G>A | GRCh37 |
| NC_000002.10:g.179147503G>A | NCBI36 |
| NG_011618.3:g.261273C>T , LRG_391:g.261273C>T | |
| NG_051363.1:g.56704G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.63898C>T (TTN) | ENSP00000343764.6:p.Arg21300Ter | |
| ENST00000342175.11:c.44983C>T (TTN) | ENSP00000340554.6:p.Arg14995Ter | |
| ENST00000359218.10:c.44782C>T (TTN) | ENSP00000352154.5:p.Arg14928Ter | |
| ENST00000342175.10:c.44983C>T (TTN) | ENSP00000340554.6:p.Arg14995Ter | |
| ENST00000342992.10:c.63898C>T (TTN) | ENSP00000343764.6:p.Arg21300Ter | |
| ENST00000359218.9:c.44782C>T (TTN) | ENSP00000352154.5:p.Arg14928Ter | |
| ENST00000460472.6:c.44407C>T (TTN) | ENSP00000434586.1:p.Arg14803Ter | |
| ENST00000589042.5:c.71602C>T (TTN) MANE Select | ENSP00000467141.1:p.Arg23868Ter | |
| ENST00000591111.5:c.66679C>T (TTN) | ENSP00000465570.1:p.Arg22227Ter | |
| ENST00000615779.4:c.66679C>T (TTN) | ENSP00000483597.1:p.Arg22227Ter | |
| NM_001256850.1:c.66679C>T (TTN) | NP_001243779.1:p.Arg22227Ter | |
| NM_001267550.2:c.71602C>T (TTN) MANE Select | NP_001254479.2:p.Arg23868Ter | |
| NM_003319.4:c.44407C>T (TTN) | NP_003310.4:p.Arg14803Ter | |
| NM_133378.4:c.63898C>T (TTN) | NP_596869.4:p.Arg21300Ter | |
| NM_133432.3:c.44782C>T (TTN) | NP_597676.3:p.Arg14928Ter | |
| NM_133437.4:c.44983C>T (TTN) | NP_597681.4:p.Arg14995Ter | |
| NR_038271.1:n.596+3081G>A (TTN-AS1) | ||
| NR_038272.1:n.2044-8042G>A (TTN-AS1) | ||
| XM_011511729.1:c.70699C>T (TTN) | XP_011510031.1:p.Arg23567Ter | |
| XM_011511730.1:c.44593C>T (TTN) | XP_011510032.1:p.Arg14865Ter | |
| XM_011511731.1:c.44452C>T (TTN) | XP_011510033.1:p.Arg14818Ter | |
| XM_017004819.1:c.70495C>T (TTN) | XP_016860308.1:p.Arg23499Ter | |
| XM_017004820.1:c.65893C>T (TTN) | XP_016860309.1:p.Arg21965Ter | |
| XM_017004821.1:c.65890C>T (TTN) | XP_016860310.1:p.Arg21964Ter | |
| XM_017004822.1:c.62932C>T (TTN) | XP_016860311.1:p.Arg20978Ter | |
| XM_017004823.1:c.44548C>T (TTN) | XP_016860312.1:p.Arg14850Ter | |
| XM_024453094.1:c.66043C>T (TTN) | XP_024308862.1:p.Arg22015Ter | |
| XM_024453095.1:c.66040C>T (TTN) | XP_024308863.1:p.Arg22014Ter | |
| XM_024453096.1:c.65473C>T (TTN) | XP_024308864.1:p.Arg21825Ter | |
| XM_024453097.1:c.62815C>T (TTN) | XP_024308865.1:p.Arg20939Ter | |
| XM_024453098.1:c.62734C>T (TTN) | XP_024308866.1:p.Arg20912Ter | |
| XM_024453099.1:c.44497C>T (TTN) | XP_024308867.1:p.Arg14833Ter | |
| XM_024453100.1:c.34351C>T (TTN) | XP_024308868.1:p.Arg11451Ter |