Linked Data
ClinVar Variation Id:
47617
dbSNP Id:
rs371531675
ExAC:
2:179402500 C / T
gnomAD v2:
2-179402500-C-T
gnomAD v3:
2-178537773-C-T
gnomAD v4:
2-178537773-C-T
PubMed:
PMID:23891399
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178537773C>T , CM000664.2:g.178537773C>T | GRCh38 |
| NC_000002.11:g.179402500C>T , CM000664.1:g.179402500C>T | GRCh37 |
| NC_000002.10:g.179110746C>T | NCBI36 |
| NG_011618.3:g.298030G>A , LRG_391:g.298030G>A | |
| NG_051363.1:g.19947C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.91730G>A (TTN) | ENSP00000343764.6:p.Arg30577Gln | |
| ENST00000342175.11:c.72815G>A (TTN) | ENSP00000340554.6:p.Arg24272Gln | |
| ENST00000359218.10:c.72614G>A (TTN) | ENSP00000352154.5:p.Arg24205Gln | |
| ENST00000342175.10:c.72815G>A (TTN) | ENSP00000340554.6:p.Arg24272Gln | |
| ENST00000342992.10:c.91730G>A (TTN) | ENSP00000343764.6:p.Arg30577Gln | |
| ENST00000359218.9:c.72614G>A (TTN) | ENSP00000352154.5:p.Arg24205Gln | |
| ENST00000460472.6:c.72239G>A (TTN) | ENSP00000434586.1:p.Arg24080Gln | |
| ENST00000589042.5:c.99434G>A (TTN) MANE Select | ENSP00000467141.1:p.Arg33145Gln | |
| ENST00000591111.5:c.94511G>A (TTN) | ENSP00000465570.1:p.Arg31504Gln | |
| ENST00000615779.4:c.94511G>A (TTN) | ENSP00000483597.1:p.Arg31504Gln | |
| NM_001256850.1:c.94511G>A (TTN) | NP_001243779.1:p.Arg31504Gln | |
| NM_001267550.2:c.99434G>A (TTN) MANE Select | NP_001254479.2:p.Arg33145Gln | |
| NM_003319.4:c.72239G>A (TTN) | NP_003310.4:p.Arg24080Gln | |
| NM_133378.4:c.91730G>A (TTN) | NP_596869.4:p.Arg30577Gln | |
| NM_133432.3:c.72614G>A (TTN) | NP_597676.3:p.Arg24205Gln | |
| NM_133437.4:c.72815G>A (TTN) | NP_597681.4:p.Arg24272Gln | |
| NR_038271.1:n.446+14137C>T (TTN-AS1) | ||
| NR_038272.1:n.647+82C>T (TTN-AS1) | ||
| XM_011511729.1:c.98531G>A (TTN) | XP_011510031.1:p.Arg32844Gln | |
| XM_011511730.1:c.72425G>A (TTN) | XP_011510032.1:p.Arg24142Gln | |
| XM_011511731.1:c.72284G>A (TTN) | XP_011510033.1:p.Arg24095Gln | |
| XM_017004819.1:c.98327G>A (TTN) | XP_016860308.1:p.Arg32776Gln | |
| XM_017004820.1:c.93725G>A (TTN) | XP_016860309.1:p.Arg31242Gln | |
| XM_017004821.1:c.93722G>A (TTN) | XP_016860310.1:p.Arg31241Gln | |
| XM_017004822.1:c.90764G>A (TTN) | XP_016860311.1:p.Arg30255Gln | |
| XM_017004823.1:c.72380G>A (TTN) | XP_016860312.1:p.Arg24127Gln | |
| XM_024453094.1:c.93875G>A (TTN) | XP_024308862.1:p.Arg31292Gln | |
| XM_024453095.1:c.93872G>A (TTN) | XP_024308863.1:p.Arg31291Gln | |
| XM_024453096.1:c.93305G>A (TTN) | XP_024308864.1:p.Arg31102Gln | |
| XM_024453097.1:c.90647G>A (TTN) | XP_024308865.1:p.Arg30216Gln | |
| XM_024453098.1:c.90566G>A (TTN) | XP_024308866.1:p.Arg30189Gln | |
| XM_024453099.1:c.72329G>A (TTN) | XP_024308867.1:p.Arg24110Gln | |
| XM_024453100.1:c.62183G>A (TTN) | XP_024308868.1:p.Arg20728Gln |