Linked Data
ClinVar Variation Id:
47601
ClinVar RCV Id:
RCV000040870
RCV000468803
RCV001084103
RCV002362661
RCV001839747
RCV001839744
RCV001839745
RCV001839746
RCV003486613
dbSNP Id:
rs368487246
ExAC:
2:179404353 C / T
gnomAD v2:
2-179404353-C-T
gnomAD v3:
2-178539626-C-T
gnomAD v4:
2-178539626-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178539626C>T , CM000664.2:g.178539626C>T | GRCh38 |
| NC_000002.11:g.179404353C>T , CM000664.1:g.179404353C>T | GRCh37 |
| NC_000002.10:g.179112599C>T | NCBI36 |
| NG_011618.3:g.296177G>A , LRG_391:g.296177G>A | |
| NG_051363.1:g.21800C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.90735G>A (TTN) | ENSP00000343764.6:p.Val30245= | |
| ENST00000342175.11:c.71820G>A (TTN) | ENSP00000340554.6:p.Val23940= | |
| ENST00000359218.10:c.71619G>A (TTN) | ENSP00000352154.5:p.Val23873= | |
| ENST00000342175.10:c.71820G>A (TTN) | ENSP00000340554.6:p.Val23940= | |
| ENST00000342992.10:c.90735G>A (TTN) | ENSP00000343764.6:p.Val30245= | |
| ENST00000359218.9:c.71619G>A (TTN) | ENSP00000352154.5:p.Val23873= | |
| ENST00000460472.6:c.71244G>A (TTN) | ENSP00000434586.1:p.Val23748= | |
| ENST00000589042.5:c.98439G>A (TTN) MANE Select | ENSP00000467141.1:p.Val32813= | |
| ENST00000591111.5:c.93516G>A (TTN) | ENSP00000465570.1:p.Val31172= | |
| ENST00000615779.4:c.93516G>A (TTN) | ENSP00000483597.1:p.Val31172= | |
| NM_001256850.1:c.93516G>A (TTN) | NP_001243779.1:p.Val31172= | |
| NM_001267550.2:c.98439G>A (TTN) MANE Select | NP_001254479.2:p.Val32813= | |
| NM_003319.4:c.71244G>A (TTN) | NP_003310.4:p.Val23748= | |
| NM_133378.4:c.90735G>A (TTN) | NP_596869.4:p.Val30245= | |
| NM_133432.3:c.71619G>A (TTN) | NP_597676.3:p.Val23873= | |
| NM_133437.4:c.71820G>A (TTN) | NP_597681.4:p.Val23940= | |
| NR_038271.1:n.446+15990C>T (TTN-AS1) | ||
| NR_038272.1:n.1576C>T (TTN-AS1) | ||
| XM_011511729.1:c.97536G>A (TTN) | XP_011510031.1:p.Val32512= | |
| XM_011511730.1:c.71430G>A (TTN) | XP_011510032.1:p.Val23810= | |
| XM_011511731.1:c.71289G>A (TTN) | XP_011510033.1:p.Val23763= | |
| XM_017004819.1:c.97332G>A (TTN) | XP_016860308.1:p.Val32444= | |
| XM_017004820.1:c.92730G>A (TTN) | XP_016860309.1:p.Val30910= | |
| XM_017004821.1:c.92727G>A (TTN) | XP_016860310.1:p.Val30909= | |
| XM_017004822.1:c.89769G>A (TTN) | XP_016860311.1:p.Val29923= | |
| XM_017004823.1:c.71385G>A (TTN) | XP_016860312.1:p.Val23795= | |
| XM_024453094.1:c.92880G>A (TTN) | XP_024308862.1:p.Val30960= | |
| XM_024453095.1:c.92877G>A (TTN) | XP_024308863.1:p.Val30959= | |
| XM_024453096.1:c.92310G>A (TTN) | XP_024308864.1:p.Val30770= | |
| XM_024453097.1:c.89652G>A (TTN) | XP_024308865.1:p.Val29884= | |
| XM_024453098.1:c.89571G>A (TTN) | XP_024308866.1:p.Val29857= | |
| XM_024453099.1:c.71334G>A (TTN) | XP_024308867.1:p.Val23778= | |
| XM_024453100.1:c.61188G>A (TTN) | XP_024308868.1:p.Val20396= |