Linked Data
ClinVar Variation Id:
179654
dbSNP Id:
rs727505024
ExAC:
2:179416885 C / T
gnomAD v2:
2-179416885-C-T
gnomAD v3:
2-178552158-C-T
gnomAD v4:
2-178552158-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178552158C>T , CM000664.2:g.178552158C>T | GRCh38 |
| NC_000002.11:g.179416885C>T , CM000664.1:g.179416885C>T | GRCh37 |
| NC_000002.10:g.179125131C>T | NCBI36 |
| NG_011618.3:g.283645G>A , LRG_391:g.283645G>A | |
| NG_051363.1:g.34332C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.83038G>A (TTN) | ENSP00000343764.6:p.Val27680Ile | |
| ENST00000342175.11:c.64123G>A (TTN) | ENSP00000340554.6:p.Val21375Ile | |
| ENST00000359218.10:c.63922G>A (TTN) | ENSP00000352154.5:p.Val21308Ile | |
| ENST00000342175.10:c.64123G>A (TTN) | ENSP00000340554.6:p.Val21375Ile | |
| ENST00000342992.10:c.83038G>A (TTN) | ENSP00000343764.6:p.Val27680Ile | |
| ENST00000359218.9:c.63922G>A (TTN) | ENSP00000352154.5:p.Val21308Ile | |
| ENST00000460472.6:c.63547G>A (TTN) | ENSP00000434586.1:p.Val21183Ile | |
| ENST00000589042.5:c.90742G>A (TTN) MANE Select | ENSP00000467141.1:p.Val30248Ile | |
| ENST00000591111.5:c.85819G>A (TTN) | ENSP00000465570.1:p.Val28607Ile | |
| ENST00000615779.4:c.85819G>A (TTN) | ENSP00000483597.1:p.Val28607Ile | |
| NM_001256850.1:c.85819G>A (TTN) | NP_001243779.1:p.Val28607Ile | |
| NM_001267550.2:c.90742G>A (TTN) MANE Select | NP_001254479.2:p.Val30248Ile | |
| NM_003319.4:c.63547G>A (TTN) | NP_003310.4:p.Val21183Ile | |
| NM_133378.4:c.83038G>A (TTN) | NP_596869.4:p.Val27680Ile | |
| NM_133432.3:c.63922G>A (TTN) | NP_597676.3:p.Val21308Ile | |
| NM_133437.4:c.64123G>A (TTN) | NP_597681.4:p.Val21375Ile | |
| NR_038271.1:n.447-19142C>T (TTN-AS1) | ||
| NR_038272.1:n.2043+9797C>T (TTN-AS1) | ||
| XM_011511729.1:c.89839G>A (TTN) | XP_011510031.1:p.Val29947Ile | |
| XM_011511730.1:c.63733G>A (TTN) | XP_011510032.1:p.Val21245Ile | |
| XM_011511731.1:c.63592G>A (TTN) | XP_011510033.1:p.Val21198Ile | |
| XM_017004819.1:c.89635G>A (TTN) | XP_016860308.1:p.Val29879Ile | |
| XM_017004820.1:c.85033G>A (TTN) | XP_016860309.1:p.Val28345Ile | |
| XM_017004821.1:c.85030G>A (TTN) | XP_016860310.1:p.Val28344Ile | |
| XM_017004822.1:c.82072G>A (TTN) | XP_016860311.1:p.Val27358Ile | |
| XM_017004823.1:c.63688G>A (TTN) | XP_016860312.1:p.Val21230Ile | |
| XM_024453094.1:c.85183G>A (TTN) | XP_024308862.1:p.Val28395Ile | |
| XM_024453095.1:c.85180G>A (TTN) | XP_024308863.1:p.Val28394Ile | |
| XM_024453096.1:c.84613G>A (TTN) | XP_024308864.1:p.Val28205Ile | |
| XM_024453097.1:c.81955G>A (TTN) | XP_024308865.1:p.Val27319Ile | |
| XM_024453098.1:c.81874G>A (TTN) | XP_024308866.1:p.Val27292Ile | |
| XM_024453099.1:c.63637G>A (TTN) | XP_024308867.1:p.Val21213Ile | |
| XM_024453100.1:c.53491G>A (TTN) | XP_024308868.1:p.Val17831Ile |