Linked Data
ClinVar Variation Id:
467593
ClinVar RCV Id:
RCV000555058
RCV001136268
RCV001132854
RCV001136270
RCV001136267
RCV001136269
RCV003139832
dbSNP Id:
rs749606240
ExAC:
2:179422431 C / T
gnomAD v2:
2-179422431-C-T
gnomAD v3:
2-178557704-C-T
gnomAD v4:
2-178557704-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178557704C>T , CM000664.2:g.178557704C>T | GRCh38 |
| NC_000002.11:g.179422431C>T , CM000664.1:g.179422431C>T | GRCh37 |
| NC_000002.10:g.179130677C>T | NCBI36 |
| NG_011618.3:g.278099G>A , LRG_391:g.278099G>A | |
| NG_051363.1:g.39878C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.79946G>A (TTN) | ENSP00000343764.6:p.Arg26649His | |
| ENST00000342175.11:c.61031G>A (TTN) | ENSP00000340554.6:p.Arg20344His | |
| ENST00000359218.10:c.60830G>A (TTN) | ENSP00000352154.5:p.Arg20277His | |
| ENST00000342175.10:c.61031G>A (TTN) | ENSP00000340554.6:p.Arg20344His | |
| ENST00000342992.10:c.79946G>A (TTN) | ENSP00000343764.6:p.Arg26649His | |
| ENST00000359218.9:c.60830G>A (TTN) | ENSP00000352154.5:p.Arg20277His | |
| ENST00000460472.6:c.60455G>A (TTN) | ENSP00000434586.1:p.Arg20152His | |
| ENST00000589042.5:c.87650G>A (TTN) MANE Select | ENSP00000467141.1:p.Arg29217His | |
| ENST00000591111.5:c.82727G>A (TTN) | ENSP00000465570.1:p.Arg27576His | |
| ENST00000615779.4:c.82727G>A (TTN) | ENSP00000483597.1:p.Arg27576His | |
| NM_001256850.1:c.82727G>A (TTN) | NP_001243779.1:p.Arg27576His | |
| NM_001267550.2:c.87650G>A (TTN) MANE Select | NP_001254479.2:p.Arg29217His | |
| NM_003319.4:c.60455G>A (TTN) | NP_003310.4:p.Arg20152His | |
| NM_133378.4:c.79946G>A (TTN) | NP_596869.4:p.Arg26649His | |
| NM_133432.3:c.60830G>A (TTN) | NP_597676.3:p.Arg20277His | |
| NM_133437.4:c.61031G>A (TTN) | NP_597681.4:p.Arg20344His | |
| NR_038271.1:n.447-13596C>T (TTN-AS1) | ||
| NR_038272.1:n.2043+15343C>T (TTN-AS1) | ||
| XM_011511729.1:c.86747G>A (TTN) | XP_011510031.1:p.Arg28916His | |
| XM_011511730.1:c.60641G>A (TTN) | XP_011510032.1:p.Arg20214His | |
| XM_011511731.1:c.60500G>A (TTN) | XP_011510033.1:p.Arg20167His | |
| XM_017004819.1:c.86543G>A (TTN) | XP_016860308.1:p.Arg28848His | |
| XM_017004820.1:c.81941G>A (TTN) | XP_016860309.1:p.Arg27314His | |
| XM_017004821.1:c.81938G>A (TTN) | XP_016860310.1:p.Arg27313His | |
| XM_017004822.1:c.78980G>A (TTN) | XP_016860311.1:p.Arg26327His | |
| XM_017004823.1:c.60596G>A (TTN) | XP_016860312.1:p.Arg20199His | |
| XM_024453094.1:c.82091G>A (TTN) | XP_024308862.1:p.Arg27364His | |
| XM_024453095.1:c.82088G>A (TTN) | XP_024308863.1:p.Arg27363His | |
| XM_024453096.1:c.81521G>A (TTN) | XP_024308864.1:p.Arg27174His | |
| XM_024453097.1:c.78863G>A (TTN) | XP_024308865.1:p.Arg26288His | |
| XM_024453098.1:c.78782G>A (TTN) | XP_024308866.1:p.Arg26261His | |
| XM_024453099.1:c.60545G>A (TTN) | XP_024308867.1:p.Arg20182His | |
| XM_024453100.1:c.50399G>A (TTN) | XP_024308868.1:p.Arg16800His |