Linked Data
ClinVar Variation Id:
283478
dbSNP Id:
rs748959693
ExAC:
2:179478545 T / G
gnomAD v2:
2-179478545-T-G
gnomAD v3:
2-178613818-T-G
gnomAD v4:
2-178613818-T-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178613818T>G , CM000664.2:g.178613818T>G | GRCh38 |
| NC_000002.11:g.179478545T>G , CM000664.1:g.179478545T>G | GRCh37 |
| NC_000002.10:g.179186790T>G | NCBI36 |
| NG_011618.3:g.221985A>C , LRG_391:g.221985A>C | |
| NG_051363.1:g.95992T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.41761A>C (TTN) | ENSP00000343764.6:p.Arg13921= | |
| ENST00000342175.11:c.22846A>C (TTN) | ENSP00000340554.6:p.Arg7616= | |
| ENST00000359218.10:c.22645A>C (TTN) | ENSP00000352154.5:p.Arg7549= | |
| ENST00000342175.10:c.22846A>C (TTN) | ENSP00000340554.6:p.Arg7616= | |
| ENST00000342992.10:c.41761A>C (TTN) | ENSP00000343764.6:p.Arg13921= | |
| ENST00000359218.9:c.22645A>C (TTN) | ENSP00000352154.5:p.Arg7549= | |
| ENST00000460472.6:c.22270A>C (TTN) | ENSP00000434586.1:p.Arg7424= | |
| ENST00000589042.5:c.49465A>C (TTN) MANE Select | ENSP00000467141.1:p.Arg16489= | |
| ENST00000591111.5:c.44542A>C (TTN) | ENSP00000465570.1:p.Arg14848= | |
| ENST00000615779.4:c.44542A>C (TTN) | ENSP00000483597.1:p.Arg14848= | |
| NM_001256850.1:c.44542A>C (TTN) | NP_001243779.1:p.Arg14848= | |
| NM_001267550.2:c.49465A>C (TTN) MANE Select | NP_001254479.2:p.Arg16489= | |
| NM_003319.4:c.22270A>C (TTN) | NP_003310.4:p.Arg7424= | |
| NM_133378.4:c.41761A>C (TTN) | NP_596869.4:p.Arg13921= | |
| NM_133432.3:c.22645A>C (TTN) | NP_597676.3:p.Arg7549= | |
| NM_133437.4:c.22846A>C (TTN) | NP_597681.4:p.Arg7616= | |
| NR_038271.1:n.783-217T>G (TTN-AS1) | ||
| XM_011511729.1:c.48562A>C (TTN) | XP_011510031.1:p.Arg16188= | |
| XM_011511730.1:c.22456A>C (TTN) | XP_011510032.1:p.Arg7486= | |
| XM_011511731.1:c.22315A>C (TTN) | XP_011510033.1:p.Arg7439= | |
| XM_017004819.1:c.48358A>C (TTN) | XP_016860308.1:p.Arg16120= | |
| XM_017004820.1:c.43756A>C (TTN) | XP_016860309.1:p.Arg14586= | |
| XM_017004821.1:c.43753A>C (TTN) | XP_016860310.1:p.Arg14585= | |
| XM_017004822.1:c.40795A>C (TTN) | XP_016860311.1:p.Arg13599= | |
| XM_017004823.1:c.22411A>C (TTN) | XP_016860312.1:p.Arg7471= | |
| XM_024453094.1:c.43906A>C (TTN) | XP_024308862.1:p.Arg14636= | |
| XM_024453095.1:c.43903A>C (TTN) | XP_024308863.1:p.Arg14635= | |
| XM_024453096.1:c.43336A>C (TTN) | XP_024308864.1:p.Arg14446= | |
| XM_024453097.1:c.40678A>C (TTN) | XP_024308865.1:p.Arg13560= | |
| XM_024453098.1:c.40597A>C (TTN) | XP_024308866.1:p.Arg13533= | |
| XM_024453099.1:c.22360A>C (TTN) | XP_024308867.1:p.Arg7454= | |
| XM_024453100.1:c.12214A>C (TTN) | XP_024308868.1:p.Arg4072= |