Linked Data
ClinVar Variation Id:
47472
dbSNP Id:
rs73036368
ExAC:
2:179421853 C / T
gnomAD v2:
2-179421853-C-T
gnomAD v3:
2-178557126-C-T
gnomAD v4:
2-178557126-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178557126C>T , CM000664.2:g.178557126C>T | GRCh38 |
| NC_000002.11:g.179421853C>T , CM000664.1:g.179421853C>T | GRCh37 |
| NC_000002.10:g.179130099C>T | NCBI36 |
| NG_011618.3:g.278677G>A , LRG_391:g.278677G>A | |
| NG_051363.1:g.39300C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.80324G>A (TTN) | ENSP00000343764.6:p.Arg26775His | |
| ENST00000342175.11:c.61409G>A (TTN) | ENSP00000340554.6:p.Arg20470His | |
| ENST00000359218.10:c.61208G>A (TTN) | ENSP00000352154.5:p.Arg20403His | |
| ENST00000342175.10:c.61409G>A (TTN) | ENSP00000340554.6:p.Arg20470His | |
| ENST00000342992.10:c.80324G>A (TTN) | ENSP00000343764.6:p.Arg26775His | |
| ENST00000359218.9:c.61208G>A (TTN) | ENSP00000352154.5:p.Arg20403His | |
| ENST00000460472.6:c.60833G>A (TTN) | ENSP00000434586.1:p.Arg20278His | |
| ENST00000589042.5:c.88028G>A (TTN) MANE Select | ENSP00000467141.1:p.Arg29343His | |
| ENST00000591111.5:c.83105G>A (TTN) | ENSP00000465570.1:p.Arg27702His | |
| ENST00000615779.4:c.83105G>A (TTN) | ENSP00000483597.1:p.Arg27702His | |
| NM_001256850.1:c.83105G>A (TTN) | NP_001243779.1:p.Arg27702His | |
| NM_001267550.2:c.88028G>A (TTN) MANE Select | NP_001254479.2:p.Arg29343His | |
| NM_003319.4:c.60833G>A (TTN) | NP_003310.4:p.Arg20278His | |
| NM_133378.4:c.80324G>A (TTN) | NP_596869.4:p.Arg26775His | |
| NM_133432.3:c.61208G>A (TTN) | NP_597676.3:p.Arg20403His | |
| NM_133437.4:c.61409G>A (TTN) | NP_597681.4:p.Arg20470His | |
| NR_038271.1:n.447-14174C>T (TTN-AS1) | ||
| NR_038272.1:n.2043+14765C>T (TTN-AS1) | ||
| XM_011511729.1:c.87125G>A (TTN) | XP_011510031.1:p.Arg29042His | |
| XM_011511730.1:c.61019G>A (TTN) | XP_011510032.1:p.Arg20340His | |
| XM_011511731.1:c.60878G>A (TTN) | XP_011510033.1:p.Arg20293His | |
| XM_017004819.1:c.86921G>A (TTN) | XP_016860308.1:p.Arg28974His | |
| XM_017004820.1:c.82319G>A (TTN) | XP_016860309.1:p.Arg27440His | |
| XM_017004821.1:c.82316G>A (TTN) | XP_016860310.1:p.Arg27439His | |
| XM_017004822.1:c.79358G>A (TTN) | XP_016860311.1:p.Arg26453His | |
| XM_017004823.1:c.60974G>A (TTN) | XP_016860312.1:p.Arg20325His | |
| XM_024453094.1:c.82469G>A (TTN) | XP_024308862.1:p.Arg27490His | |
| XM_024453095.1:c.82466G>A (TTN) | XP_024308863.1:p.Arg27489His | |
| XM_024453096.1:c.81899G>A (TTN) | XP_024308864.1:p.Arg27300His | |
| XM_024453097.1:c.79241G>A (TTN) | XP_024308865.1:p.Arg26414His | |
| XM_024453098.1:c.79160G>A (TTN) | XP_024308866.1:p.Arg26387His | |
| XM_024453099.1:c.60923G>A (TTN) | XP_024308867.1:p.Arg20308His | |
| XM_024453100.1:c.50777G>A (TTN) | XP_024308868.1:p.Arg16926His |