Linked Data
ClinVar Variation Id:
47208
ClinVar RCV Id:
RCV000040478
RCV000172649
RCV000244887
RCV001130634
RCV001080680
RCV001170810
RCV001130633
RCV001130635
RCV001129930
RCV001129931
RCV003319176
RCV004541165
dbSNP Id:
rs72646859
ExAC:
2:179451454 G / A
gnomAD v2:
2-179451454-G-A
gnomAD v3:
2-178586727-G-A
gnomAD v4:
2-178586727-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178586727G>A , CM000664.2:g.178586727G>A | GRCh38 |
| NC_000002.11:g.179451454G>A , CM000664.1:g.179451454G>A | GRCh37 |
| NC_000002.10:g.179159700G>A | NCBI36 |
| NG_011618.3:g.249076C>T , LRG_391:g.249076C>T | |
| NG_051363.1:g.68901G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.56470C>T (TTN) | ENSP00000343764.6:p.Arg18824Cys | |
| ENST00000342175.11:c.37555C>T (TTN) | ENSP00000340554.6:p.Arg12519Cys | |
| ENST00000359218.10:c.37354C>T (TTN) | ENSP00000352154.5:p.Arg12452Cys | |
| ENST00000342175.10:c.37555C>T (TTN) | ENSP00000340554.6:p.Arg12519Cys | |
| ENST00000342992.10:c.56470C>T (TTN) | ENSP00000343764.6:p.Arg18824Cys | |
| ENST00000359218.9:c.37354C>T (TTN) | ENSP00000352154.5:p.Arg12452Cys | |
| ENST00000460472.6:c.36979C>T (TTN) | ENSP00000434586.1:p.Arg12327Cys | |
| ENST00000589042.5:c.64174C>T (TTN) MANE Select | ENSP00000467141.1:p.Arg21392Cys | |
| ENST00000591111.5:c.59251C>T (TTN) | ENSP00000465570.1:p.Arg19751Cys | |
| ENST00000615779.4:c.59251C>T (TTN) | ENSP00000483597.1:p.Arg19751Cys | |
| NM_001256850.1:c.59251C>T (TTN) | NP_001243779.1:p.Arg19751Cys | |
| NM_001267550.2:c.64174C>T (TTN) MANE Select | NP_001254479.2:p.Arg21392Cys | |
| NM_003319.4:c.36979C>T (TTN) | NP_003310.4:p.Arg12327Cys | |
| NM_133378.4:c.56470C>T (TTN) | NP_596869.4:p.Arg18824Cys | |
| NM_133432.3:c.37354C>T (TTN) | NP_597676.3:p.Arg12452Cys | |
| NM_133437.4:c.37555C>T (TTN) | NP_597681.4:p.Arg12519Cys | |
| NR_038271.1:n.597-10869G>A (TTN-AS1) | ||
| NR_038272.1:n.3188+1734G>A (TTN-AS1) | ||
| XM_011511729.1:c.63271C>T (TTN) | XP_011510031.1:p.Arg21091Cys | |
| XM_011511730.1:c.37165C>T (TTN) | XP_011510032.1:p.Arg12389Cys | |
| XM_011511731.1:c.37024C>T (TTN) | XP_011510033.1:p.Arg12342Cys | |
| XM_017004819.1:c.63067C>T (TTN) | XP_016860308.1:p.Arg21023Cys | |
| XM_017004820.1:c.58465C>T (TTN) | XP_016860309.1:p.Arg19489Cys | |
| XM_017004821.1:c.58462C>T (TTN) | XP_016860310.1:p.Arg19488Cys | |
| XM_017004822.1:c.55504C>T (TTN) | XP_016860311.1:p.Arg18502Cys | |
| XM_017004823.1:c.37120C>T (TTN) | XP_016860312.1:p.Arg12374Cys | |
| XM_024453094.1:c.58615C>T (TTN) | XP_024308862.1:p.Arg19539Cys | |
| XM_024453095.1:c.58612C>T (TTN) | XP_024308863.1:p.Arg19538Cys | |
| XM_024453096.1:c.58045C>T (TTN) | XP_024308864.1:p.Arg19349Cys | |
| XM_024453097.1:c.55387C>T (TTN) | XP_024308865.1:p.Arg18463Cys | |
| XM_024453098.1:c.55306C>T (TTN) | XP_024308866.1:p.Arg18436Cys | |
| XM_024453099.1:c.37069C>T (TTN) | XP_024308867.1:p.Arg12357Cys | |
| XM_024453100.1:c.26923C>T (TTN) | XP_024308868.1:p.Arg8975Cys |