Linked Data
ClinVar Variation Id:
228125
ClinVar RCV Id:
RCV000222014
RCV000324683
RCV000267310
RCV000284705
RCV000731696
RCV000318684
RCV000376978
dbSNP Id:
rs368716894
ExAC:
2:179449105 C / T
gnomAD v2:
2-179449105-C-T
gnomAD v3:
2-178584378-C-T
gnomAD v4:
2-178584378-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178584378C>T , CM000664.2:g.178584378C>T | GRCh38 |
| NC_000002.11:g.179449105C>T , CM000664.1:g.179449105C>T | GRCh37 |
| NC_000002.10:g.179157351C>T | NCBI36 |
| NG_011618.3:g.251425G>A , LRG_391:g.251425G>A | |
| NG_051363.1:g.66552C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.57469G>A (TTN) | ENSP00000343764.6:p.Val19157Ile | |
| ENST00000342175.11:c.38554G>A (TTN) | ENSP00000340554.6:p.Val12852Ile | |
| ENST00000359218.10:c.38353G>A (TTN) | ENSP00000352154.5:p.Val12785Ile | |
| ENST00000342175.10:c.38554G>A (TTN) | ENSP00000340554.6:p.Val12852Ile | |
| ENST00000342992.10:c.57469G>A (TTN) | ENSP00000343764.6:p.Val19157Ile | |
| ENST00000359218.9:c.38353G>A (TTN) | ENSP00000352154.5:p.Val12785Ile | |
| ENST00000460472.6:c.37978G>A (TTN) | ENSP00000434586.1:p.Val12660Ile | |
| ENST00000589042.5:c.65173G>A (TTN) MANE Select | ENSP00000467141.1:p.Val21725Ile | |
| ENST00000591111.5:c.60250G>A (TTN) | ENSP00000465570.1:p.Val20084Ile | |
| ENST00000615779.4:c.60250G>A (TTN) | ENSP00000483597.1:p.Val20084Ile | |
| NM_001256850.1:c.60250G>A (TTN) | NP_001243779.1:p.Val20084Ile | |
| NM_001267550.2:c.65173G>A (TTN) MANE Select | NP_001254479.2:p.Val21725Ile | |
| NM_003319.4:c.37978G>A (TTN) | NP_003310.4:p.Val12660Ile | |
| NM_133378.4:c.57469G>A (TTN) | NP_596869.4:p.Val19157Ile | |
| NM_133432.3:c.38353G>A (TTN) | NP_597676.3:p.Val12785Ile | |
| NM_133437.4:c.38554G>A (TTN) | NP_597681.4:p.Val12852Ile | |
| NR_038271.1:n.596+12929C>T (TTN-AS1) | ||
| NR_038272.1:n.2768-195C>T (TTN-AS1) | ||
| XM_011511729.1:c.64270G>A (TTN) | XP_011510031.1:p.Val21424Ile | |
| XM_011511730.1:c.38164G>A (TTN) | XP_011510032.1:p.Val12722Ile | |
| XM_011511731.1:c.38023G>A (TTN) | XP_011510033.1:p.Val12675Ile | |
| XM_017004819.1:c.64066G>A (TTN) | XP_016860308.1:p.Val21356Ile | |
| XM_017004820.1:c.59464G>A (TTN) | XP_016860309.1:p.Val19822Ile | |
| XM_017004821.1:c.59461G>A (TTN) | XP_016860310.1:p.Val19821Ile | |
| XM_017004822.1:c.56503G>A (TTN) | XP_016860311.1:p.Val18835Ile | |
| XM_017004823.1:c.38119G>A (TTN) | XP_016860312.1:p.Val12707Ile | |
| XM_024453094.1:c.59614G>A (TTN) | XP_024308862.1:p.Val19872Ile | |
| XM_024453095.1:c.59611G>A (TTN) | XP_024308863.1:p.Val19871Ile | |
| XM_024453096.1:c.59044G>A (TTN) | XP_024308864.1:p.Val19682Ile | |
| XM_024453097.1:c.56386G>A (TTN) | XP_024308865.1:p.Val18796Ile | |
| XM_024453098.1:c.56305G>A (TTN) | XP_024308866.1:p.Val18769Ile | |
| XM_024453099.1:c.38068G>A (TTN) | XP_024308867.1:p.Val12690Ile | |
| XM_024453100.1:c.27922G>A (TTN) | XP_024308868.1:p.Val9308Ile |