Linked Data
ClinVar Variation Id:
467283
ClinVar RCV Id:
RCV000549572
dbSNP Id:
rs1025426023
gnomAD v2:
2-179464577-C-T
gnomAD v3:
2-178599850-C-T
gnomAD v4:
2-178599850-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178599850C>T , CM000664.2:g.178599850C>T | GRCh38 |
| NC_000002.11:g.179464577C>T , CM000664.1:g.179464577C>T | GRCh37 |
| NC_000002.10:g.179172822C>T | NCBI36 |
| NG_011618.3:g.235953G>A , LRG_391:g.235953G>A | |
| NG_051363.1:g.82024C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.48347G>A (TTN) | ENSP00000343764.6:p.Cys16116Tyr | |
| ENST00000342175.11:c.29432G>A (TTN) | ENSP00000340554.6:p.Cys9811Tyr | |
| ENST00000359218.10:c.29231G>A (TTN) | ENSP00000352154.5:p.Cys9744Tyr | |
| ENST00000342175.10:c.29432G>A (TTN) | ENSP00000340554.6:p.Cys9811Tyr | |
| ENST00000342992.10:c.48347G>A (TTN) | ENSP00000343764.6:p.Cys16116Tyr | |
| ENST00000359218.9:c.29231G>A (TTN) | ENSP00000352154.5:p.Cys9744Tyr | |
| ENST00000460472.6:c.28856G>A (TTN) | ENSP00000434586.1:p.Cys9619Tyr | |
| ENST00000589042.5:c.56051G>A (TTN) MANE Select | ENSP00000467141.1:p.Cys18684Tyr | |
| ENST00000591111.5:c.51128G>A (TTN) | ENSP00000465570.1:p.Cys17043Tyr | |
| ENST00000615779.4:c.51128G>A (TTN) | ENSP00000483597.1:p.Cys17043Tyr | |
| NM_001256850.1:c.51128G>A (TTN) | NP_001243779.1:p.Cys17043Tyr | |
| NM_001267550.2:c.56051G>A (TTN) MANE Select | NP_001254479.2:p.Cys18684Tyr | |
| NM_003319.4:c.28856G>A (TTN) | NP_003310.4:p.Cys9619Tyr | |
| NM_133378.4:c.48347G>A (TTN) | NP_596869.4:p.Cys16116Tyr | |
| NM_133432.3:c.29231G>A (TTN) | NP_597676.3:p.Cys9744Tyr | |
| NM_133437.4:c.29432G>A (TTN) | NP_597681.4:p.Cys9811Tyr | |
| NR_038271.1:n.682+2169C>T (TTN-AS1) | ||
| NR_038272.1:n.3725+100C>T (TTN-AS1) | ||
| XM_011511729.1:c.55148G>A (TTN) | XP_011510031.1:p.Cys18383Tyr | |
| XM_011511730.1:c.29042G>A (TTN) | XP_011510032.1:p.Cys9681Tyr | |
| XM_011511731.1:c.28901G>A (TTN) | XP_011510033.1:p.Cys9634Tyr | |
| XM_017004819.1:c.54944G>A (TTN) | XP_016860308.1:p.Cys18315Tyr | |
| XM_017004820.1:c.50342G>A (TTN) | XP_016860309.1:p.Cys16781Tyr | |
| XM_017004821.1:c.50339G>A (TTN) | XP_016860310.1:p.Cys16780Tyr | |
| XM_017004822.1:c.47381G>A (TTN) | XP_016860311.1:p.Cys15794Tyr | |
| XM_017004823.1:c.28997G>A (TTN) | XP_016860312.1:p.Cys9666Tyr | |
| XM_024453094.1:c.50492G>A (TTN) | XP_024308862.1:p.Cys16831Tyr | |
| XM_024453095.1:c.50489G>A (TTN) | XP_024308863.1:p.Cys16830Tyr | |
| XM_024453096.1:c.49922G>A (TTN) | XP_024308864.1:p.Cys16641Tyr | |
| XM_024453097.1:c.47264G>A (TTN) | XP_024308865.1:p.Cys15755Tyr | |
| XM_024453098.1:c.47183G>A (TTN) | XP_024308866.1:p.Cys15728Tyr | |
| XM_024453099.1:c.28946G>A (TTN) | XP_024308867.1:p.Cys9649Tyr | |
| XM_024453100.1:c.18800G>A (TTN) | XP_024308868.1:p.Cys6267Tyr |