Linked Data
ClinVar Variation Id:
47633
ClinVar RCV Id:
RCV000040902
RCV000118798
RCV000251517
RCV000299708
RCV000334610
RCV000404458
RCV000349947
RCV000407040
RCV001083282
RCV000852781
RCV001170520
RCV003993771
dbSNP Id:
rs56273463
ExAC:
2:179400130 G / A
gnomAD v2:
2-179400130-G-A
gnomAD v3:
2-178535403-G-A
gnomAD v4:
2-178535403-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178535403G>A , CM000664.2:g.178535403G>A | GRCh38 |
| NC_000002.11:g.179400130G>A , CM000664.1:g.179400130G>A | GRCh37 |
| NC_000002.10:g.179108376G>A | NCBI36 |
| NG_011618.3:g.300400C>T , LRG_391:g.300400C>T | |
| NG_051363.1:g.17577G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.93508C>T (TTN) | ENSP00000343764.6:p.Arg31170Cys | |
| ENST00000342175.11:c.74593C>T (TTN) | ENSP00000340554.6:p.Arg24865Cys | |
| ENST00000359218.10:c.74392C>T (TTN) | ENSP00000352154.5:p.Arg24798Cys | |
| ENST00000342175.10:c.74593C>T (TTN) | ENSP00000340554.6:p.Arg24865Cys | |
| ENST00000342992.10:c.93508C>T (TTN) | ENSP00000343764.6:p.Arg31170Cys | |
| ENST00000359218.9:c.74392C>T (TTN) | ENSP00000352154.5:p.Arg24798Cys | |
| ENST00000460472.6:c.74017C>T (TTN) | ENSP00000434586.1:p.Arg24673Cys | |
| ENST00000589042.5:c.101212C>T (TTN) MANE Select | ENSP00000467141.1:p.Arg33738Cys | |
| ENST00000591111.5:c.96289C>T (TTN) | ENSP00000465570.1:p.Arg32097Cys | |
| ENST00000615779.4:c.96289C>T (TTN) | ENSP00000483597.1:p.Arg32097Cys | |
| NM_001256850.1:c.96289C>T (TTN) | NP_001243779.1:p.Arg32097Cys | |
| NM_001267550.2:c.101212C>T (TTN) MANE Select | NP_001254479.2:p.Arg33738Cys | |
| NM_003319.4:c.74017C>T (TTN) | NP_003310.4:p.Arg24673Cys | |
| NM_133378.4:c.93508C>T (TTN) | NP_596869.4:p.Arg31170Cys | |
| NM_133432.3:c.74392C>T (TTN) | NP_597676.3:p.Arg24798Cys | |
| NM_133437.4:c.74593C>T (TTN) | NP_597681.4:p.Arg24865Cys | |
| NR_038271.1:n.446+11767G>A (TTN-AS1) | ||
| NR_038272.1:n.220-329G>A (TTN-AS1) | ||
| XM_011511729.1:c.100309C>T (TTN) | XP_011510031.1:p.Arg33437Cys | |
| XM_011511730.1:c.74203C>T (TTN) | XP_011510032.1:p.Arg24735Cys | |
| XM_011511731.1:c.74062C>T (TTN) | XP_011510033.1:p.Arg24688Cys | |
| XM_017004819.1:c.100105C>T (TTN) | XP_016860308.1:p.Arg33369Cys | |
| XM_017004820.1:c.95503C>T (TTN) | XP_016860309.1:p.Arg31835Cys | |
| XM_017004821.1:c.95500C>T (TTN) | XP_016860310.1:p.Arg31834Cys | |
| XM_017004822.1:c.92542C>T (TTN) | XP_016860311.1:p.Arg30848Cys | |
| XM_017004823.1:c.74158C>T (TTN) | XP_016860312.1:p.Arg24720Cys | |
| XM_024453094.1:c.95653C>T (TTN) | XP_024308862.1:p.Arg31885Cys | |
| XM_024453095.1:c.95650C>T (TTN) | XP_024308863.1:p.Arg31884Cys | |
| XM_024453096.1:c.95083C>T (TTN) | XP_024308864.1:p.Arg31695Cys | |
| XM_024453097.1:c.92425C>T (TTN) | XP_024308865.1:p.Arg30809Cys | |
| XM_024453098.1:c.92344C>T (TTN) | XP_024308866.1:p.Arg30782Cys | |
| XM_024453099.1:c.74107C>T (TTN) | XP_024308867.1:p.Arg24703Cys | |
| XM_024453100.1:c.63961C>T (TTN) | XP_024308868.1:p.Arg21321Cys |