Linked Data
dbSNP Id:
rs747056438
ExAC:
2:179422533 G / T
gnomAD v2:
2-179422533-G-T
gnomAD v3:
2-178557806-G-T
gnomAD v4:
2-178557806-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178557806G>T , CM000664.2:g.178557806G>T | GRCh38 |
| NC_000002.11:g.179422533G>T , CM000664.1:g.179422533G>T | GRCh37 |
| NC_000002.10:g.179130779G>T | NCBI36 |
| NG_011618.3:g.277997C>A , LRG_391:g.277997C>A | |
| NG_051363.1:g.39980G>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000342992.11:c.79844C>A (TTN) | ENSP00000343764.6:p.Ala26615Glu | |
| ENST00000342175.11:c.60929C>A (TTN) | ENSP00000340554.6:p.Ala20310Glu | |
| ENST00000359218.10:c.60728C>A (TTN) | ENSP00000352154.5:p.Ala20243Glu | |
| ENST00000342175.10:c.60929C>A (TTN) | ENSP00000340554.6:p.Ala20310Glu | |
| ENST00000342992.10:c.79844C>A (TTN) | ENSP00000343764.6:p.Ala26615Glu | |
| ENST00000359218.9:c.60728C>A (TTN) | ENSP00000352154.5:p.Ala20243Glu | |
| ENST00000460472.6:c.60353C>A (TTN) | ENSP00000434586.1:p.Ala20118Glu | |
| ENST00000589042.5:c.87548C>A (TTN) MANE Select | ENSP00000467141.1:p.Ala29183Glu | |
| ENST00000591111.5:c.82625C>A (TTN) | ENSP00000465570.1:p.Ala27542Glu | |
| ENST00000615779.4:c.82625C>A (TTN) | ENSP00000483597.1:p.Ala27542Glu | |
| NM_001256850.1:c.82625C>A (TTN) | NP_001243779.1:p.Ala27542Glu | |
| NM_001267550.2:c.87548C>A (TTN) MANE Select | NP_001254479.2:p.Ala29183Glu | |
| NM_003319.4:c.60353C>A (TTN) | NP_003310.4:p.Ala20118Glu | |
| NM_133378.4:c.79844C>A (TTN) | NP_596869.4:p.Ala26615Glu | |
| NM_133432.3:c.60728C>A (TTN) | NP_597676.3:p.Ala20243Glu | |
| NM_133437.4:c.60929C>A (TTN) | NP_597681.4:p.Ala20310Glu | |
| NR_038271.1:n.447-13494G>T (TTN-AS1) | ||
| NR_038272.1:n.2043+15445G>T (TTN-AS1) | ||
| XM_011511729.1:c.86645C>A (TTN) | XP_011510031.1:p.Ala28882Glu | |
| XM_011511730.1:c.60539C>A (TTN) | XP_011510032.1:p.Ala20180Glu | |
| XM_011511731.1:c.60398C>A (TTN) | XP_011510033.1:p.Ala20133Glu | |
| XM_017004819.1:c.86441C>A (TTN) | XP_016860308.1:p.Ala28814Glu | |
| XM_017004820.1:c.81839C>A (TTN) | XP_016860309.1:p.Ala27280Glu | |
| XM_017004821.1:c.81836C>A (TTN) | XP_016860310.1:p.Ala27279Glu | |
| XM_017004822.1:c.78878C>A (TTN) | XP_016860311.1:p.Ala26293Glu | |
| XM_017004823.1:c.60494C>A (TTN) | XP_016860312.1:p.Ala20165Glu | |
| XM_024453094.1:c.81989C>A (TTN) | XP_024308862.1:p.Ala27330Glu | |
| XM_024453095.1:c.81986C>A (TTN) | XP_024308863.1:p.Ala27329Glu | |
| XM_024453096.1:c.81419C>A (TTN) | XP_024308864.1:p.Ala27140Glu | |
| XM_024453097.1:c.78761C>A (TTN) | XP_024308865.1:p.Ala26254Glu | |
| XM_024453098.1:c.78680C>A (TTN) | XP_024308866.1:p.Ala26227Glu | |
| XM_024453099.1:c.60443C>A (TTN) | XP_024308867.1:p.Ala20148Glu | |
| XM_024453100.1:c.50297C>A (TTN) | XP_024308868.1:p.Ala16766Glu |