Linked Data
ClinVar Variation Id:
47173
dbSNP Id:
rs202012910
ExAC:
2:179455043 A / G
gnomAD v2:
2-179455043-A-G
gnomAD v3:
2-178590316-A-G
gnomAD v4:
2-178590316-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178590316A>G , CM000664.2:g.178590316A>G | GRCh38 |
| NC_000002.11:g.179455043A>G , CM000664.1:g.179455043A>G | GRCh37 |
| NC_000002.10:g.179163289A>G | NCBI36 |
| NG_011618.3:g.245487T>C , LRG_391:g.245487T>C | |
| NG_051363.1:g.72490A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.53705T>C (TTN) | ENSP00000343764.6:p.Ile17902Thr | |
| ENST00000342175.11:c.34790T>C (TTN) | ENSP00000340554.6:p.Ile11597Thr | |
| ENST00000359218.10:c.34589T>C (TTN) | ENSP00000352154.5:p.Ile11530Thr | |
| ENST00000342175.10:c.34790T>C (TTN) | ENSP00000340554.6:p.Ile11597Thr | |
| ENST00000342992.10:c.53705T>C (TTN) | ENSP00000343764.6:p.Ile17902Thr | |
| ENST00000359218.9:c.34589T>C (TTN) | ENSP00000352154.5:p.Ile11530Thr | |
| ENST00000460472.6:c.34214T>C (TTN) | ENSP00000434586.1:p.Ile11405Thr | |
| ENST00000589042.5:c.61409T>C (TTN) MANE Select | ENSP00000467141.1:p.Ile20470Thr | |
| ENST00000591111.5:c.56486T>C (TTN) | ENSP00000465570.1:p.Ile18829Thr | |
| ENST00000615779.4:c.56486T>C (TTN) | ENSP00000483597.1:p.Ile18829Thr | |
| NM_001256850.1:c.56486T>C (TTN) | NP_001243779.1:p.Ile18829Thr | |
| NM_001267550.2:c.61409T>C (TTN) MANE Select | NP_001254479.2:p.Ile20470Thr | |
| NM_003319.4:c.34214T>C (TTN) | NP_003310.4:p.Ile11405Thr | |
| NM_133378.4:c.53705T>C (TTN) | NP_596869.4:p.Ile17902Thr | |
| NM_133432.3:c.34589T>C (TTN) | NP_597676.3:p.Ile11530Thr | |
| NM_133437.4:c.34790T>C (TTN) | NP_597681.4:p.Ile11597Thr | |
| NR_038271.1:n.597-7280A>G (TTN-AS1) | ||
| NR_038272.1:n.3189-823A>G (TTN-AS1) | ||
| XM_011511729.1:c.60506T>C (TTN) | XP_011510031.1:p.Ile20169Thr | |
| XM_011511730.1:c.34400T>C (TTN) | XP_011510032.1:p.Ile11467Thr | |
| XM_011511731.1:c.34259T>C (TTN) | XP_011510033.1:p.Ile11420Thr | |
| XM_017004819.1:c.60302T>C (TTN) | XP_016860308.1:p.Ile20101Thr | |
| XM_017004820.1:c.55700T>C (TTN) | XP_016860309.1:p.Ile18567Thr | |
| XM_017004821.1:c.55697T>C (TTN) | XP_016860310.1:p.Ile18566Thr | |
| XM_017004822.1:c.52739T>C (TTN) | XP_016860311.1:p.Ile17580Thr | |
| XM_017004823.1:c.34355T>C (TTN) | XP_016860312.1:p.Ile11452Thr | |
| XM_024453094.1:c.55850T>C (TTN) | XP_024308862.1:p.Ile18617Thr | |
| XM_024453095.1:c.55847T>C (TTN) | XP_024308863.1:p.Ile18616Thr | |
| XM_024453096.1:c.55280T>C (TTN) | XP_024308864.1:p.Ile18427Thr | |
| XM_024453097.1:c.52622T>C (TTN) | XP_024308865.1:p.Ile17541Thr | |
| XM_024453098.1:c.52541T>C (TTN) | XP_024308866.1:p.Ile17514Thr | |
| XM_024453099.1:c.34304T>C (TTN) | XP_024308867.1:p.Ile11435Thr | |
| XM_024453100.1:c.24158T>C (TTN) | XP_024308868.1:p.Ile8053Thr |