Linked Data
ClinVar Variation Id:
47643
ClinVar RCV Id:
RCV000040912
RCV000082468
RCV000621955
RCV000852778
RCV001131352
RCV001131354
RCV001082939
RCV001131353
RCV001131350
RCV001131351
RCV001798210
dbSNP Id:
rs55669553
ExAC:
2:179399451 C / T
gnomAD v2:
2-179399451-C-T
gnomAD v3:
2-178534724-C-T
gnomAD v4:
2-178534724-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178534724C>T , CM000664.2:g.178534724C>T | GRCh38 |
| NC_000002.11:g.179399451C>T , CM000664.1:g.179399451C>T | GRCh37 |
| NC_000002.10:g.179107697C>T | NCBI36 |
| NG_011618.3:g.301079G>A , LRG_391:g.301079G>A | |
| NG_051363.1:g.16898C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.94187G>A (TTN) | ENSP00000343764.6:p.Arg31396His | |
| ENST00000342175.11:c.75272G>A (TTN) | ENSP00000340554.6:p.Arg25091His | |
| ENST00000359218.10:c.75071G>A (TTN) | ENSP00000352154.5:p.Arg25024His | |
| ENST00000342175.10:c.75272G>A (TTN) | ENSP00000340554.6:p.Arg25091His | |
| ENST00000342992.10:c.94187G>A (TTN) | ENSP00000343764.6:p.Arg31396His | |
| ENST00000359218.9:c.75071G>A (TTN) | ENSP00000352154.5:p.Arg25024His | |
| ENST00000460472.6:c.74696G>A (TTN) | ENSP00000434586.1:p.Arg24899His | |
| ENST00000589042.5:c.101891G>A (TTN) MANE Select | ENSP00000467141.1:p.Arg33964His | |
| ENST00000591111.5:c.96968G>A (TTN) | ENSP00000465570.1:p.Arg32323His | |
| ENST00000615779.4:c.96968G>A (TTN) | ENSP00000483597.1:p.Arg32323His | |
| NM_001256850.1:c.96968G>A (TTN) | NP_001243779.1:p.Arg32323His | |
| NM_001267550.2:c.101891G>A (TTN) MANE Select | NP_001254479.2:p.Arg33964His | |
| NM_003319.4:c.74696G>A (TTN) | NP_003310.4:p.Arg24899His | |
| NM_133378.4:c.94187G>A (TTN) | NP_596869.4:p.Arg31396His | |
| NM_133432.3:c.75071G>A (TTN) | NP_597676.3:p.Arg25024His | |
| NM_133437.4:c.75272G>A (TTN) | NP_597681.4:p.Arg25091His | |
| NR_038271.1:n.446+11088C>T (TTN-AS1) | ||
| NR_038272.1:n.220-1008C>T (TTN-AS1) | ||
| XM_011511729.1:c.100988G>A (TTN) | XP_011510031.1:p.Arg33663His | |
| XM_011511730.1:c.74882G>A (TTN) | XP_011510032.1:p.Arg24961His | |
| XM_011511731.1:c.74741G>A (TTN) | XP_011510033.1:p.Arg24914His | |
| XM_017004819.1:c.100784G>A (TTN) | XP_016860308.1:p.Arg33595His | |
| XM_017004820.1:c.96182G>A (TTN) | XP_016860309.1:p.Arg32061His | |
| XM_017004821.1:c.96179G>A (TTN) | XP_016860310.1:p.Arg32060His | |
| XM_017004822.1:c.93221G>A (TTN) | XP_016860311.1:p.Arg31074His | |
| XM_017004823.1:c.74837G>A (TTN) | XP_016860312.1:p.Arg24946His | |
| XM_024453094.1:c.96332G>A (TTN) | XP_024308862.1:p.Arg32111His | |
| XM_024453095.1:c.96329G>A (TTN) | XP_024308863.1:p.Arg32110His | |
| XM_024453096.1:c.95762G>A (TTN) | XP_024308864.1:p.Arg31921His | |
| XM_024453097.1:c.93104G>A (TTN) | XP_024308865.1:p.Arg31035His | |
| XM_024453098.1:c.93023G>A (TTN) | XP_024308866.1:p.Arg31008His | |
| XM_024453099.1:c.74786G>A (TTN) | XP_024308867.1:p.Arg24929His | |
| XM_024453100.1:c.64640G>A (TTN) | XP_024308868.1:p.Arg21547His |