Linked Data
ClinVar Variation Id:
47416
ClinVar RCV Id:
RCV000040686
RCV000267329
RCV000327142
RCV000363058
RCV000362027
RCV000302688
RCV000724925
RCV001427304
RCV001798184
RCV002345320
dbSNP Id:
rs55634791
ExAC:
2:179428168 G / A
gnomAD v2:
2-179428168-G-A
gnomAD v3:
2-178563441-G-A
gnomAD v4:
2-178563441-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178563441G>A , CM000664.2:g.178563441G>A | GRCh38 |
| NC_000002.11:g.179428168G>A , CM000664.1:g.179428168G>A | GRCh37 |
| NC_000002.10:g.179136414G>A | NCBI36 |
| NG_011618.3:g.272362C>T , LRG_391:g.272362C>T | |
| NG_051363.1:g.45615G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.74987C>T (TTN) | ENSP00000343764.6:p.Ala24996Val | |
| ENST00000342175.11:c.56072C>T (TTN) | ENSP00000340554.6:p.Ala18691Val | |
| ENST00000359218.10:c.55871C>T (TTN) | ENSP00000352154.5:p.Ala18624Val | |
| ENST00000342175.10:c.56072C>T (TTN) | ENSP00000340554.6:p.Ala18691Val | |
| ENST00000342992.10:c.74987C>T (TTN) | ENSP00000343764.6:p.Ala24996Val | |
| ENST00000359218.9:c.55871C>T (TTN) | ENSP00000352154.5:p.Ala18624Val | |
| ENST00000460472.6:c.55496C>T (TTN) | ENSP00000434586.1:p.Ala18499Val | |
| ENST00000589042.5:c.82691C>T (TTN) MANE Select | ENSP00000467141.1:p.Ala27564Val | |
| ENST00000591111.5:c.77768C>T (TTN) | ENSP00000465570.1:p.Ala25923Val | |
| ENST00000615779.4:c.77768C>T (TTN) | ENSP00000483597.1:p.Ala25923Val | |
| NM_001256850.1:c.77768C>T (TTN) | NP_001243779.1:p.Ala25923Val | |
| NM_001267550.2:c.82691C>T (TTN) MANE Select | NP_001254479.2:p.Ala27564Val | |
| NM_003319.4:c.55496C>T (TTN) | NP_003310.4:p.Ala18499Val | |
| NM_133378.4:c.74987C>T (TTN) | NP_596869.4:p.Ala24996Val | |
| NM_133432.3:c.55871C>T (TTN) | NP_597676.3:p.Ala18624Val | |
| NM_133437.4:c.56072C>T (TTN) | NP_597681.4:p.Ala18691Val | |
| NR_038271.1:n.447-7859G>A (TTN-AS1) | ||
| NR_038272.1:n.2044-19131G>A (TTN-AS1) | ||
| XM_011511729.1:c.81788C>T (TTN) | XP_011510031.1:p.Ala27263Val | |
| XM_011511730.1:c.55682C>T (TTN) | XP_011510032.1:p.Ala18561Val | |
| XM_011511731.1:c.55541C>T (TTN) | XP_011510033.1:p.Ala18514Val | |
| XM_017004819.1:c.81584C>T (TTN) | XP_016860308.1:p.Ala27195Val | |
| XM_017004820.1:c.76982C>T (TTN) | XP_016860309.1:p.Ala25661Val | |
| XM_017004821.1:c.76979C>T (TTN) | XP_016860310.1:p.Ala25660Val | |
| XM_017004822.1:c.74021C>T (TTN) | XP_016860311.1:p.Ala24674Val | |
| XM_017004823.1:c.55637C>T (TTN) | XP_016860312.1:p.Ala18546Val | |
| XM_024453094.1:c.77132C>T (TTN) | XP_024308862.1:p.Ala25711Val | |
| XM_024453095.1:c.77129C>T (TTN) | XP_024308863.1:p.Ala25710Val | |
| XM_024453096.1:c.76562C>T (TTN) | XP_024308864.1:p.Ala25521Val | |
| XM_024453097.1:c.73904C>T (TTN) | XP_024308865.1:p.Ala24635Val | |
| XM_024453098.1:c.73823C>T (TTN) | XP_024308866.1:p.Ala24608Val | |
| XM_024453099.1:c.55586C>T (TTN) | XP_024308867.1:p.Ala18529Val | |
| XM_024453100.1:c.45440C>T (TTN) | XP_024308868.1:p.Ala15147Val |