Linked Data
ClinVar Variation Id:
202776
dbSNP Id:
rs376800688
ExAC:
2:179452459 G / A
gnomAD v2:
2-179452459-G-A
gnomAD v3:
2-178587732-G-A
gnomAD v4:
2-178587732-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178587732G>A , CM000664.2:g.178587732G>A | GRCh38 |
| NC_000002.11:g.179452459G>A , CM000664.1:g.179452459G>A | GRCh37 |
| NC_000002.10:g.179160705G>A | NCBI36 |
| NG_011618.3:g.248071C>T , LRG_391:g.248071C>T | |
| NG_051363.1:g.69906G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.55873C>T (TTN) | ENSP00000343764.6:p.Arg18625Cys | |
| ENST00000342175.11:c.36958C>T (TTN) | ENSP00000340554.6:p.Arg12320Cys | |
| ENST00000359218.10:c.36757C>T (TTN) | ENSP00000352154.5:p.Arg12253Cys | |
| ENST00000342175.10:c.36958C>T (TTN) | ENSP00000340554.6:p.Arg12320Cys | |
| ENST00000342992.10:c.55873C>T (TTN) | ENSP00000343764.6:p.Arg18625Cys | |
| ENST00000359218.9:c.36757C>T (TTN) | ENSP00000352154.5:p.Arg12253Cys | |
| ENST00000460472.6:c.36382C>T (TTN) | ENSP00000434586.1:p.Arg12128Cys | |
| ENST00000589042.5:c.63577C>T (TTN) MANE Select | ENSP00000467141.1:p.Arg21193Cys | |
| ENST00000591111.5:c.58654C>T (TTN) | ENSP00000465570.1:p.Arg19552Cys | |
| ENST00000615779.4:c.58654C>T (TTN) | ENSP00000483597.1:p.Arg19552Cys | |
| NM_001256850.1:c.58654C>T (TTN) | NP_001243779.1:p.Arg19552Cys | |
| NM_001267550.2:c.63577C>T (TTN) MANE Select | NP_001254479.2:p.Arg21193Cys | |
| NM_003319.4:c.36382C>T (TTN) | NP_003310.4:p.Arg12128Cys | |
| NM_133378.4:c.55873C>T (TTN) | NP_596869.4:p.Arg18625Cys | |
| NM_133432.3:c.36757C>T (TTN) | NP_597676.3:p.Arg12253Cys | |
| NM_133437.4:c.36958C>T (TTN) | NP_597681.4:p.Arg12320Cys | |
| NR_038271.1:n.597-9864G>A (TTN-AS1) | ||
| NR_038272.1:n.3188+2739G>A (TTN-AS1) | ||
| XM_011511729.1:c.62674C>T (TTN) | XP_011510031.1:p.Arg20892Cys | |
| XM_011511730.1:c.36568C>T (TTN) | XP_011510032.1:p.Arg12190Cys | |
| XM_011511731.1:c.36427C>T (TTN) | XP_011510033.1:p.Arg12143Cys | |
| XM_017004819.1:c.62470C>T (TTN) | XP_016860308.1:p.Arg20824Cys | |
| XM_017004820.1:c.57868C>T (TTN) | XP_016860309.1:p.Arg19290Cys | |
| XM_017004821.1:c.57865C>T (TTN) | XP_016860310.1:p.Arg19289Cys | |
| XM_017004822.1:c.54907C>T (TTN) | XP_016860311.1:p.Arg18303Cys | |
| XM_017004823.1:c.36523C>T (TTN) | XP_016860312.1:p.Arg12175Cys | |
| XM_024453094.1:c.58018C>T (TTN) | XP_024308862.1:p.Arg19340Cys | |
| XM_024453095.1:c.58015C>T (TTN) | XP_024308863.1:p.Arg19339Cys | |
| XM_024453096.1:c.57448C>T (TTN) | XP_024308864.1:p.Arg19150Cys | |
| XM_024453097.1:c.54790C>T (TTN) | XP_024308865.1:p.Arg18264Cys | |
| XM_024453098.1:c.54709C>T (TTN) | XP_024308866.1:p.Arg18237Cys | |
| XM_024453099.1:c.36472C>T (TTN) | XP_024308867.1:p.Arg12158Cys | |
| XM_024453100.1:c.26326C>T (TTN) | XP_024308868.1:p.Arg8776Cys |