Linked Data
ClinVar Variation Id:
404900
dbSNP Id:
rs201091423
ExAC:
2:179464457 T / C
gnomAD v2:
2-179464457-T-C
gnomAD v3:
2-178599730-T-C
gnomAD v4:
2-178599730-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178599730T>C , CM000664.2:g.178599730T>C | GRCh38 |
| NC_000002.11:g.179464457T>C , CM000664.1:g.179464457T>C | GRCh37 |
| NC_000002.10:g.179172702T>C | NCBI36 |
| NG_011618.3:g.236073A>G , LRG_391:g.236073A>G | |
| NG_051363.1:g.81904T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.48467A>G (TTN) | ENSP00000343764.6:p.Lys16156Arg | |
| ENST00000342175.11:c.29552A>G (TTN) | ENSP00000340554.6:p.Lys9851Arg | |
| ENST00000359218.10:c.29351A>G (TTN) | ENSP00000352154.5:p.Lys9784Arg | |
| ENST00000342175.10:c.29552A>G (TTN) | ENSP00000340554.6:p.Lys9851Arg | |
| ENST00000342992.10:c.48467A>G (TTN) | ENSP00000343764.6:p.Lys16156Arg | |
| ENST00000359218.9:c.29351A>G (TTN) | ENSP00000352154.5:p.Lys9784Arg | |
| ENST00000460472.6:c.28976A>G (TTN) | ENSP00000434586.1:p.Lys9659Arg | |
| ENST00000589042.5:c.56171A>G (TTN) MANE Select | ENSP00000467141.1:p.Lys18724Arg | |
| ENST00000591111.5:c.51248A>G (TTN) | ENSP00000465570.1:p.Lys17083Arg | |
| ENST00000615779.4:c.51248A>G (TTN) | ENSP00000483597.1:p.Lys17083Arg | |
| NM_001256850.1:c.51248A>G (TTN) | NP_001243779.1:p.Lys17083Arg | |
| NM_001267550.2:c.56171A>G (TTN) MANE Select | NP_001254479.2:p.Lys18724Arg | |
| NM_003319.4:c.28976A>G (TTN) | NP_003310.4:p.Lys9659Arg | |
| NM_133378.4:c.48467A>G (TTN) | NP_596869.4:p.Lys16156Arg | |
| NM_133432.3:c.29351A>G (TTN) | NP_597676.3:p.Lys9784Arg | |
| NM_133437.4:c.29552A>G (TTN) | NP_597681.4:p.Lys9851Arg | |
| NR_038271.1:n.682+2049T>C (TTN-AS1) | ||
| NR_038272.1:n.3705T>C (TTN-AS1) | ||
| XM_011511729.1:c.55268A>G (TTN) | XP_011510031.1:p.Lys18423Arg | |
| XM_011511730.1:c.29162A>G (TTN) | XP_011510032.1:p.Lys9721Arg | |
| XM_011511731.1:c.29021A>G (TTN) | XP_011510033.1:p.Lys9674Arg | |
| XM_017004819.1:c.55064A>G (TTN) | XP_016860308.1:p.Lys18355Arg | |
| XM_017004820.1:c.50462A>G (TTN) | XP_016860309.1:p.Lys16821Arg | |
| XM_017004821.1:c.50459A>G (TTN) | XP_016860310.1:p.Lys16820Arg | |
| XM_017004822.1:c.47501A>G (TTN) | XP_016860311.1:p.Lys15834Arg | |
| XM_017004823.1:c.29117A>G (TTN) | XP_016860312.1:p.Lys9706Arg | |
| XM_024453094.1:c.50612A>G (TTN) | XP_024308862.1:p.Lys16871Arg | |
| XM_024453095.1:c.50609A>G (TTN) | XP_024308863.1:p.Lys16870Arg | |
| XM_024453096.1:c.50042A>G (TTN) | XP_024308864.1:p.Lys16681Arg | |
| XM_024453097.1:c.47384A>G (TTN) | XP_024308865.1:p.Lys15795Arg | |
| XM_024453098.1:c.47303A>G (TTN) | XP_024308866.1:p.Lys15768Arg | |
| XM_024453099.1:c.29066A>G (TTN) | XP_024308867.1:p.Lys9689Arg | |
| XM_024453100.1:c.18920A>G (TTN) | XP_024308868.1:p.Lys6307Arg |