Linked Data
ClinVar Variation Id:
196080
ClinVar RCV Id:
RCV000617448
RCV000768920
RCV000176815
RCV001130187
RCV001130188
RCV001130888
RCV001130889
RCV001130890
dbSNP Id:
rs368038362
ExAC:
2:179433610 C / T
gnomAD v2:
2-179433610-C-T
gnomAD v3:
2-178568883-C-T
gnomAD v4:
2-178568883-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178568883C>T , CM000664.2:g.178568883C>T | GRCh38 |
| NC_000002.11:g.179433610C>T , CM000664.1:g.179433610C>T | GRCh37 |
| NC_000002.10:g.179141856C>T | NCBI36 |
| NG_011618.3:g.266920G>A , LRG_391:g.266920G>A | |
| NG_051363.1:g.51057C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.69545G>A (TTN) | ENSP00000343764.6:p.Arg23182Gln | |
| ENST00000342175.11:c.50630G>A (TTN) | ENSP00000340554.6:p.Arg16877Gln | |
| ENST00000359218.10:c.50429G>A (TTN) | ENSP00000352154.5:p.Arg16810Gln | |
| ENST00000342175.10:c.50630G>A (TTN) | ENSP00000340554.6:p.Arg16877Gln | |
| ENST00000342992.10:c.69545G>A (TTN) | ENSP00000343764.6:p.Arg23182Gln | |
| ENST00000359218.9:c.50429G>A (TTN) | ENSP00000352154.5:p.Arg16810Gln | |
| ENST00000460472.6:c.50054G>A (TTN) | ENSP00000434586.1:p.Arg16685Gln | |
| ENST00000589042.5:c.77249G>A (TTN) MANE Select | ENSP00000467141.1:p.Arg25750Gln | |
| ENST00000591111.5:c.72326G>A (TTN) | ENSP00000465570.1:p.Arg24109Gln | |
| ENST00000615779.4:c.72326G>A (TTN) | ENSP00000483597.1:p.Arg24109Gln | |
| NM_001256850.1:c.72326G>A (TTN) | NP_001243779.1:p.Arg24109Gln | |
| NM_001267550.2:c.77249G>A (TTN) MANE Select | NP_001254479.2:p.Arg25750Gln | |
| NM_003319.4:c.50054G>A (TTN) | NP_003310.4:p.Arg16685Gln | |
| NM_133378.4:c.69545G>A (TTN) | NP_596869.4:p.Arg23182Gln | |
| NM_133432.3:c.50429G>A (TTN) | NP_597676.3:p.Arg16810Gln | |
| NM_133437.4:c.50630G>A (TTN) | NP_597681.4:p.Arg16877Gln | |
| NR_038271.1:n.447-2417C>T (TTN-AS1) | ||
| NR_038272.1:n.2044-13689C>T (TTN-AS1) | ||
| XM_011511729.1:c.76346G>A (TTN) | XP_011510031.1:p.Arg25449Gln | |
| XM_011511730.1:c.50240G>A (TTN) | XP_011510032.1:p.Arg16747Gln | |
| XM_011511731.1:c.50099G>A (TTN) | XP_011510033.1:p.Arg16700Gln | |
| XM_017004819.1:c.76142G>A (TTN) | XP_016860308.1:p.Arg25381Gln | |
| XM_017004820.1:c.71540G>A (TTN) | XP_016860309.1:p.Arg23847Gln | |
| XM_017004821.1:c.71537G>A (TTN) | XP_016860310.1:p.Arg23846Gln | |
| XM_017004822.1:c.68579G>A (TTN) | XP_016860311.1:p.Arg22860Gln | |
| XM_017004823.1:c.50195G>A (TTN) | XP_016860312.1:p.Arg16732Gln | |
| XM_024453094.1:c.71690G>A (TTN) | XP_024308862.1:p.Arg23897Gln | |
| XM_024453095.1:c.71687G>A (TTN) | XP_024308863.1:p.Arg23896Gln | |
| XM_024453096.1:c.71120G>A (TTN) | XP_024308864.1:p.Arg23707Gln | |
| XM_024453097.1:c.68462G>A (TTN) | XP_024308865.1:p.Arg22821Gln | |
| XM_024453098.1:c.68381G>A (TTN) | XP_024308866.1:p.Arg22794Gln | |
| XM_024453099.1:c.50144G>A (TTN) | XP_024308867.1:p.Arg16715Gln | |
| XM_024453100.1:c.39998G>A (TTN) | XP_024308868.1:p.Arg13333Gln |