Linked Data
ClinVar Variation Id:
137808
dbSNP Id:
rs573877174
ExAC:
2:179430137 T / G
gnomAD v2:
2-179430137-T-G
gnomAD v3:
2-178565410-T-G
gnomAD v4:
2-178565410-T-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178565410T>G , CM000664.2:g.178565410T>G | GRCh38 |
| NC_000002.11:g.179430137T>G , CM000664.1:g.179430137T>G | GRCh37 |
| NC_000002.10:g.179138383T>G | NCBI36 |
| NG_011618.3:g.270393A>C , LRG_391:g.270393A>C | |
| NG_051363.1:g.47584T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.73018A>C (TTN) | ENSP00000343764.6:p.Arg24340= | |
| ENST00000342175.11:c.54103A>C (TTN) | ENSP00000340554.6:p.Arg18035= | |
| ENST00000359218.10:c.53902A>C (TTN) | ENSP00000352154.5:p.Arg17968= | |
| ENST00000342175.10:c.54103A>C (TTN) | ENSP00000340554.6:p.Arg18035= | |
| ENST00000342992.10:c.73018A>C (TTN) | ENSP00000343764.6:p.Arg24340= | |
| ENST00000359218.9:c.53902A>C (TTN) | ENSP00000352154.5:p.Arg17968= | |
| ENST00000460472.6:c.53527A>C (TTN) | ENSP00000434586.1:p.Arg17843= | |
| ENST00000589042.5:c.80722A>C (TTN) MANE Select | ENSP00000467141.1:p.Arg26908= | |
| ENST00000591111.5:c.75799A>C (TTN) | ENSP00000465570.1:p.Arg25267= | |
| ENST00000615779.4:c.75799A>C (TTN) | ENSP00000483597.1:p.Arg25267= | |
| NM_001256850.1:c.75799A>C (TTN) | NP_001243779.1:p.Arg25267= | |
| NM_001267550.2:c.80722A>C (TTN) MANE Select | NP_001254479.2:p.Arg26908= | |
| NM_003319.4:c.53527A>C (TTN) | NP_003310.4:p.Arg17843= | |
| NM_133378.4:c.73018A>C (TTN) | NP_596869.4:p.Arg24340= | |
| NM_133432.3:c.53902A>C (TTN) | NP_597676.3:p.Arg17968= | |
| NM_133437.4:c.54103A>C (TTN) | NP_597681.4:p.Arg18035= | |
| NR_038271.1:n.447-5890T>G (TTN-AS1) | ||
| NR_038272.1:n.2044-17162T>G (TTN-AS1) | ||
| XM_011511729.1:c.79819A>C (TTN) | XP_011510031.1:p.Arg26607= | |
| XM_011511730.1:c.53713A>C (TTN) | XP_011510032.1:p.Arg17905= | |
| XM_011511731.1:c.53572A>C (TTN) | XP_011510033.1:p.Arg17858= | |
| XM_017004819.1:c.79615A>C (TTN) | XP_016860308.1:p.Arg26539= | |
| XM_017004820.1:c.75013A>C (TTN) | XP_016860309.1:p.Arg25005= | |
| XM_017004821.1:c.75010A>C (TTN) | XP_016860310.1:p.Arg25004= | |
| XM_017004822.1:c.72052A>C (TTN) | XP_016860311.1:p.Arg24018= | |
| XM_017004823.1:c.53668A>C (TTN) | XP_016860312.1:p.Arg17890= | |
| XM_024453094.1:c.75163A>C (TTN) | XP_024308862.1:p.Arg25055= | |
| XM_024453095.1:c.75160A>C (TTN) | XP_024308863.1:p.Arg25054= | |
| XM_024453096.1:c.74593A>C (TTN) | XP_024308864.1:p.Arg24865= | |
| XM_024453097.1:c.71935A>C (TTN) | XP_024308865.1:p.Arg23979= | |
| XM_024453098.1:c.71854A>C (TTN) | XP_024308866.1:p.Arg23952= | |
| XM_024453099.1:c.53617A>C (TTN) | XP_024308867.1:p.Arg17873= | |
| XM_024453100.1:c.43471A>C (TTN) | XP_024308868.1:p.Arg14491= |