Linked Data
ClinVar Variation Id:
165664
ClinVar RCV Id:
RCV000152165
RCV000277427
RCV000328826
RCV000324927
RCV000381891
RCV000376472
RCV000621516
RCV000471295
RCV000768836
RCV000724741
RCV000764299
dbSNP Id:
rs200166942
ExAC:
2:179401074 A / C
gnomAD v2:
2-179401074-A-C
gnomAD v3:
2-178536347-A-C
gnomAD v4:
2-178536347-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178536347A>C , CM000664.2:g.178536347A>C | GRCh38 |
| NC_000002.11:g.179401074A>C , CM000664.1:g.179401074A>C | GRCh37 |
| NC_000002.10:g.179109320A>C | NCBI36 |
| NG_011618.3:g.299456T>G , LRG_391:g.299456T>G | |
| NG_051363.1:g.18521A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.92696T>G (TTN) | ENSP00000343764.6:p.Val30899Gly | |
| ENST00000342175.11:c.73781T>G (TTN) | ENSP00000340554.6:p.Val24594Gly | |
| ENST00000359218.10:c.73580T>G (TTN) | ENSP00000352154.5:p.Val24527Gly | |
| ENST00000342175.10:c.73781T>G (TTN) | ENSP00000340554.6:p.Val24594Gly | |
| ENST00000342992.10:c.92696T>G (TTN) | ENSP00000343764.6:p.Val30899Gly | |
| ENST00000359218.9:c.73580T>G (TTN) | ENSP00000352154.5:p.Val24527Gly | |
| ENST00000460472.6:c.73205T>G (TTN) | ENSP00000434586.1:p.Val24402Gly | |
| ENST00000589042.5:c.100400T>G (TTN) MANE Select | ENSP00000467141.1:p.Val33467Gly | |
| ENST00000591111.5:c.95477T>G (TTN) | ENSP00000465570.1:p.Val31826Gly | |
| ENST00000615779.4:c.95477T>G (TTN) | ENSP00000483597.1:p.Val31826Gly | |
| NM_001256850.1:c.95477T>G (TTN) | NP_001243779.1:p.Val31826Gly | |
| NM_001267550.2:c.100400T>G (TTN) MANE Select | NP_001254479.2:p.Val33467Gly | |
| NM_003319.4:c.73205T>G (TTN) | NP_003310.4:p.Val24402Gly | |
| NM_133378.4:c.92696T>G (TTN) | NP_596869.4:p.Val30899Gly | |
| NM_133432.3:c.73580T>G (TTN) | NP_597676.3:p.Val24527Gly | |
| NM_133437.4:c.73781T>G (TTN) | NP_597681.4:p.Val24594Gly | |
| NR_038271.1:n.446+12711A>C (TTN-AS1) | ||
| NR_038272.1:n.316+519A>C (TTN-AS1) | ||
| XM_011511729.1:c.99497T>G (TTN) | XP_011510031.1:p.Val33166Gly | |
| XM_011511730.1:c.73391T>G (TTN) | XP_011510032.1:p.Val24464Gly | |
| XM_011511731.1:c.73250T>G (TTN) | XP_011510033.1:p.Val24417Gly | |
| XM_017004819.1:c.99293T>G (TTN) | XP_016860308.1:p.Val33098Gly | |
| XM_017004820.1:c.94691T>G (TTN) | XP_016860309.1:p.Val31564Gly | |
| XM_017004821.1:c.94688T>G (TTN) | XP_016860310.1:p.Val31563Gly | |
| XM_017004822.1:c.91730T>G (TTN) | XP_016860311.1:p.Val30577Gly | |
| XM_017004823.1:c.73346T>G (TTN) | XP_016860312.1:p.Val24449Gly | |
| XM_024453094.1:c.94841T>G (TTN) | XP_024308862.1:p.Val31614Gly | |
| XM_024453095.1:c.94838T>G (TTN) | XP_024308863.1:p.Val31613Gly | |
| XM_024453096.1:c.94271T>G (TTN) | XP_024308864.1:p.Val31424Gly | |
| XM_024453097.1:c.91613T>G (TTN) | XP_024308865.1:p.Val30538Gly | |
| XM_024453098.1:c.91532T>G (TTN) | XP_024308866.1:p.Val30511Gly | |
| XM_024453099.1:c.73295T>G (TTN) | XP_024308867.1:p.Val24432Gly | |
| XM_024453100.1:c.63149T>G (TTN) | XP_024308868.1:p.Val21050Gly |