Linked Data
ClinVar Variation Id:
202663
dbSNP Id:
rs72677238
ExAC:
2:179481354 C / T
gnomAD v2:
2-179481354-C-T
gnomAD v3:
2-178616627-C-T
gnomAD v4:
2-178616627-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178616627C>T , CM000664.2:g.178616627C>T | GRCh38 |
| NC_000002.11:g.179481354C>T , CM000664.1:g.179481354C>T | GRCh37 |
| NC_000002.10:g.179189599C>T | NCBI36 |
| NG_011618.3:g.219176G>A , LRG_391:g.219176G>A | |
| NG_051363.1:g.98801C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.40460G>A (TTN) | ENSP00000343764.6:p.Arg13487His | |
| ENST00000342175.11:c.21545G>A (TTN) | ENSP00000340554.6:p.Arg7182His | |
| ENST00000359218.10:c.21344G>A (TTN) | ENSP00000352154.5:p.Arg7115His | |
| ENST00000342175.10:c.21545G>A (TTN) | ENSP00000340554.6:p.Arg7182His | |
| ENST00000342992.10:c.40460G>A (TTN) | ENSP00000343764.6:p.Arg13487His | |
| ENST00000359218.9:c.21344G>A (TTN) | ENSP00000352154.5:p.Arg7115His | |
| ENST00000460472.6:c.20969G>A (TTN) | ENSP00000434586.1:p.Arg6990His | |
| ENST00000589042.5:c.48164G>A (TTN) MANE Select | ENSP00000467141.1:p.Arg16055His | |
| ENST00000591111.5:c.43241G>A (TTN) | ENSP00000465570.1:p.Arg14414His | |
| ENST00000615779.4:c.43241G>A (TTN) | ENSP00000483597.1:p.Arg14414His | |
| NM_001256850.1:c.43241G>A (TTN) | NP_001243779.1:p.Arg14414His | |
| NM_001267550.2:c.48164G>A (TTN) MANE Select | NP_001254479.2:p.Arg16055His | |
| NM_003319.4:c.20969G>A (TTN) | NP_003310.4:p.Arg6990His | |
| NM_133378.4:c.40460G>A (TTN) | NP_596869.4:p.Arg13487His | |
| NM_133432.3:c.21344G>A (TTN) | NP_597676.3:p.Arg7115His | |
| NM_133437.4:c.21545G>A (TTN) | NP_597681.4:p.Arg7182His | |
| NR_038271.1:n.1604+1253C>T (TTN-AS1) | ||
| XM_011511729.1:c.47261G>A (TTN) | XP_011510031.1:p.Arg15754His | |
| XM_011511730.1:c.21155G>A (TTN) | XP_011510032.1:p.Arg7052His | |
| XM_011511731.1:c.21014G>A (TTN) | XP_011510033.1:p.Arg7005His | |
| XM_017004819.1:c.47057G>A (TTN) | XP_016860308.1:p.Arg15686His | |
| XM_017004820.1:c.42455G>A (TTN) | XP_016860309.1:p.Arg14152His | |
| XM_017004821.1:c.42452G>A (TTN) | XP_016860310.1:p.Arg14151His | |
| XM_017004822.1:c.39494G>A (TTN) | XP_016860311.1:p.Arg13165His | |
| XM_017004823.1:c.21110G>A (TTN) | XP_016860312.1:p.Arg7037His | |
| XM_024453094.1:c.42605G>A (TTN) | XP_024308862.1:p.Arg14202His | |
| XM_024453095.1:c.42602G>A (TTN) | XP_024308863.1:p.Arg14201His | |
| XM_024453096.1:c.42035G>A (TTN) | XP_024308864.1:p.Arg14012His | |
| XM_024453097.1:c.39377G>A (TTN) | XP_024308865.1:p.Arg13126His | |
| XM_024453098.1:c.39296G>A (TTN) | XP_024308866.1:p.Arg13099His | |
| XM_024453099.1:c.21059G>A (TTN) | XP_024308867.1:p.Arg7020His | |
| XM_024453100.1:c.10913G>A (TTN) | XP_024308868.1:p.Arg3638His |