Linked Data
ClinVar Variation Id:
165869
ClinVar RCV Id:
RCV000152238
RCV000184251
RCV000845462
RCV000769969
RCV002288662
RCV002326874
RCV002516063
dbSNP Id:
rs371678190
gnomAD v2:
2-179442793-G-A
gnomAD v3:
2-178578066-G-A
gnomAD v4:
2-178578066-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178578066G>A , CM000664.2:g.178578066G>A | GRCh38 |
| NC_000002.11:g.179442793G>A , CM000664.1:g.179442793G>A | GRCh37 |
| NC_000002.10:g.179151039G>A | NCBI36 |
| NG_011618.3:g.257737C>T , LRG_391:g.257737C>T | |
| NG_051363.1:g.60240G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.60745C>T (TTN) | ENSP00000343764.6:p.Arg20249Ter | |
| ENST00000342175.11:c.41830C>T (TTN) | ENSP00000340554.6:p.Arg13944Ter | |
| ENST00000359218.10:c.41629C>T (TTN) | ENSP00000352154.5:p.Arg13877Ter | |
| ENST00000342175.10:c.41830C>T (TTN) | ENSP00000340554.6:p.Arg13944Ter | |
| ENST00000342992.10:c.60745C>T (TTN) | ENSP00000343764.6:p.Arg20249Ter | |
| ENST00000359218.9:c.41629C>T (TTN) | ENSP00000352154.5:p.Arg13877Ter | |
| ENST00000460472.6:c.41254C>T (TTN) | ENSP00000434586.1:p.Arg13752Ter | |
| ENST00000589042.5:c.68449C>T (TTN) MANE Select | ENSP00000467141.1:p.Arg22817Ter | |
| ENST00000591111.5:c.63526C>T (TTN) | ENSP00000465570.1:p.Arg21176Ter | |
| ENST00000615779.4:c.63526C>T (TTN) | ENSP00000483597.1:p.Arg21176Ter | |
| NM_001256850.1:c.63526C>T (TTN) | NP_001243779.1:p.Arg21176Ter | |
| NM_001267550.2:c.68449C>T (TTN) MANE Select | NP_001254479.2:p.Arg22817Ter | |
| NM_003319.4:c.41254C>T (TTN) | NP_003310.4:p.Arg13752Ter | |
| NM_133378.4:c.60745C>T (TTN) | NP_596869.4:p.Arg20249Ter | |
| NM_133432.3:c.41629C>T (TTN) | NP_597676.3:p.Arg13877Ter | |
| NM_133437.4:c.41830C>T (TTN) | NP_597681.4:p.Arg13944Ter | |
| NR_038271.1:n.596+6617G>A (TTN-AS1) | ||
| NR_038272.1:n.2044-4506G>A (TTN-AS1) | ||
| XM_011511729.1:c.67546C>T (TTN) | XP_011510031.1:p.Arg22516Ter | |
| XM_011511730.1:c.41440C>T (TTN) | XP_011510032.1:p.Arg13814Ter | |
| XM_011511731.1:c.41299C>T (TTN) | XP_011510033.1:p.Arg13767Ter | |
| XM_017004819.1:c.67342C>T (TTN) | XP_016860308.1:p.Arg22448Ter | |
| XM_017004820.1:c.62740C>T (TTN) | XP_016860309.1:p.Arg20914Ter | |
| XM_017004821.1:c.62737C>T (TTN) | XP_016860310.1:p.Arg20913Ter | |
| XM_017004822.1:c.59779C>T (TTN) | XP_016860311.1:p.Arg19927Ter | |
| XM_017004823.1:c.41395C>T (TTN) | XP_016860312.1:p.Arg13799Ter | |
| XM_024453094.1:c.62890C>T (TTN) | XP_024308862.1:p.Arg20964Ter | |
| XM_024453095.1:c.62887C>T (TTN) | XP_024308863.1:p.Arg20963Ter | |
| XM_024453096.1:c.62320C>T (TTN) | XP_024308864.1:p.Arg20774Ter | |
| XM_024453097.1:c.59662C>T (TTN) | XP_024308865.1:p.Arg19888Ter | |
| XM_024453098.1:c.59581C>T (TTN) | XP_024308866.1:p.Arg19861Ter | |
| XM_024453099.1:c.41344C>T (TTN) | XP_024308867.1:p.Arg13782Ter | |
| XM_024453100.1:c.31198C>T (TTN) | XP_024308868.1:p.Arg10400Ter |