Linked Data
ClinVar Variation Id:
534979
dbSNP Id:
rs375454098
ExAC:
2:179431791 T / C
gnomAD v2:
2-179431791-T-C
gnomAD v3:
2-178567064-T-C
gnomAD v4:
2-178567064-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178567064T>C , CM000664.2:g.178567064T>C | GRCh38 |
| NC_000002.11:g.179431791T>C , CM000664.1:g.179431791T>C | GRCh37 |
| NC_000002.10:g.179140037T>C | NCBI36 |
| NG_011618.3:g.268739A>G , LRG_391:g.268739A>G | |
| NG_051363.1:g.49238T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.71364A>G (TTN) | ENSP00000343764.6:p.Glu23788= | |
| ENST00000342175.11:c.52449A>G (TTN) | ENSP00000340554.6:p.Glu17483= | |
| ENST00000359218.10:c.52248A>G (TTN) | ENSP00000352154.5:p.Glu17416= | |
| ENST00000342175.10:c.52449A>G (TTN) | ENSP00000340554.6:p.Glu17483= | |
| ENST00000342992.10:c.71364A>G (TTN) | ENSP00000343764.6:p.Glu23788= | |
| ENST00000359218.9:c.52248A>G (TTN) | ENSP00000352154.5:p.Glu17416= | |
| ENST00000460472.6:c.51873A>G (TTN) | ENSP00000434586.1:p.Glu17291= | |
| ENST00000589042.5:c.79068A>G (TTN) MANE Select | ENSP00000467141.1:p.Glu26356= | |
| ENST00000591111.5:c.74145A>G (TTN) | ENSP00000465570.1:p.Glu24715= | |
| ENST00000615779.4:c.74145A>G (TTN) | ENSP00000483597.1:p.Glu24715= | |
| NM_001256850.1:c.74145A>G (TTN) | NP_001243779.1:p.Glu24715= | |
| NM_001267550.2:c.79068A>G (TTN) MANE Select | NP_001254479.2:p.Glu26356= | |
| NM_003319.4:c.51873A>G (TTN) | NP_003310.4:p.Glu17291= | |
| NM_133378.4:c.71364A>G (TTN) | NP_596869.4:p.Glu23788= | |
| NM_133432.3:c.52248A>G (TTN) | NP_597676.3:p.Glu17416= | |
| NM_133437.4:c.52449A>G (TTN) | NP_597681.4:p.Glu17483= | |
| NR_038271.1:n.447-4236T>C (TTN-AS1) | ||
| NR_038272.1:n.2044-15508T>C (TTN-AS1) | ||
| XM_011511729.1:c.78165A>G (TTN) | XP_011510031.1:p.Glu26055= | |
| XM_011511730.1:c.52059A>G (TTN) | XP_011510032.1:p.Glu17353= | |
| XM_011511731.1:c.51918A>G (TTN) | XP_011510033.1:p.Glu17306= | |
| XM_017004819.1:c.77961A>G (TTN) | XP_016860308.1:p.Glu25987= | |
| XM_017004820.1:c.73359A>G (TTN) | XP_016860309.1:p.Glu24453= | |
| XM_017004821.1:c.73356A>G (TTN) | XP_016860310.1:p.Glu24452= | |
| XM_017004822.1:c.70398A>G (TTN) | XP_016860311.1:p.Glu23466= | |
| XM_017004823.1:c.52014A>G (TTN) | XP_016860312.1:p.Glu17338= | |
| XM_024453094.1:c.73509A>G (TTN) | XP_024308862.1:p.Glu24503= | |
| XM_024453095.1:c.73506A>G (TTN) | XP_024308863.1:p.Glu24502= | |
| XM_024453096.1:c.72939A>G (TTN) | XP_024308864.1:p.Glu24313= | |
| XM_024453097.1:c.70281A>G (TTN) | XP_024308865.1:p.Glu23427= | |
| XM_024453098.1:c.70200A>G (TTN) | XP_024308866.1:p.Glu23400= | |
| XM_024453099.1:c.51963A>G (TTN) | XP_024308867.1:p.Glu17321= | |
| XM_024453100.1:c.41817A>G (TTN) | XP_024308868.1:p.Glu13939= |