Linked Data
ClinVar Variation Id:
179010
dbSNP Id:
rs553668520
ExAC:
2:179414922 G / A
gnomAD v2:
2-179414922-G-A
gnomAD v3:
2-178550195-G-A
gnomAD v4:
2-178550195-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178550195G>A , CM000664.2:g.178550195G>A | GRCh38 |
| NC_000002.11:g.179414922G>A , CM000664.1:g.179414922G>A | GRCh37 |
| NC_000002.10:g.179123168G>A | NCBI36 |
| NG_011618.3:g.285608C>T , LRG_391:g.285608C>T | |
| NG_051363.1:g.32369G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.83939C>T (TTN) | ENSP00000343764.6:p.Ala27980Val | |
| ENST00000342175.11:c.65024C>T (TTN) | ENSP00000340554.6:p.Ala21675Val | |
| ENST00000359218.10:c.64823C>T (TTN) | ENSP00000352154.5:p.Ala21608Val | |
| ENST00000342175.10:c.65024C>T (TTN) | ENSP00000340554.6:p.Ala21675Val | |
| ENST00000342992.10:c.83939C>T (TTN) | ENSP00000343764.6:p.Ala27980Val | |
| ENST00000359218.9:c.64823C>T (TTN) | ENSP00000352154.5:p.Ala21608Val | |
| ENST00000460472.6:c.64448C>T (TTN) | ENSP00000434586.1:p.Ala21483Val | |
| ENST00000589042.5:c.91643C>T (TTN) MANE Select | ENSP00000467141.1:p.Ala30548Val | |
| ENST00000591111.5:c.86720C>T (TTN) | ENSP00000465570.1:p.Ala28907Val | |
| ENST00000615779.4:c.86720C>T (TTN) | ENSP00000483597.1:p.Ala28907Val | |
| NM_001256850.1:c.86720C>T (TTN) | NP_001243779.1:p.Ala28907Val | |
| NM_001267550.2:c.91643C>T (TTN) MANE Select | NP_001254479.2:p.Ala30548Val | |
| NM_003319.4:c.64448C>T (TTN) | NP_003310.4:p.Ala21483Val | |
| NM_133378.4:c.83939C>T (TTN) | NP_596869.4:p.Ala27980Val | |
| NM_133432.3:c.64823C>T (TTN) | NP_597676.3:p.Ala21608Val | |
| NM_133437.4:c.65024C>T (TTN) | NP_597681.4:p.Ala21675Val | |
| NR_038271.1:n.447-21105G>A (TTN-AS1) | ||
| NR_038272.1:n.2043+7834G>A (TTN-AS1) | ||
| XM_011511729.1:c.90740C>T (TTN) | XP_011510031.1:p.Ala30247Val | |
| XM_011511730.1:c.64634C>T (TTN) | XP_011510032.1:p.Ala21545Val | |
| XM_011511731.1:c.64493C>T (TTN) | XP_011510033.1:p.Ala21498Val | |
| XM_017004819.1:c.90536C>T (TTN) | XP_016860308.1:p.Ala30179Val | |
| XM_017004820.1:c.85934C>T (TTN) | XP_016860309.1:p.Ala28645Val | |
| XM_017004821.1:c.85931C>T (TTN) | XP_016860310.1:p.Ala28644Val | |
| XM_017004822.1:c.82973C>T (TTN) | XP_016860311.1:p.Ala27658Val | |
| XM_017004823.1:c.64589C>T (TTN) | XP_016860312.1:p.Ala21530Val | |
| XM_024453094.1:c.86084C>T (TTN) | XP_024308862.1:p.Ala28695Val | |
| XM_024453095.1:c.86081C>T (TTN) | XP_024308863.1:p.Ala28694Val | |
| XM_024453096.1:c.85514C>T (TTN) | XP_024308864.1:p.Ala28505Val | |
| XM_024453097.1:c.82856C>T (TTN) | XP_024308865.1:p.Ala27619Val | |
| XM_024453098.1:c.82775C>T (TTN) | XP_024308866.1:p.Ala27592Val | |
| XM_024453099.1:c.64538C>T (TTN) | XP_024308867.1:p.Ala21513Val | |
| XM_024453100.1:c.54392C>T (TTN) | XP_024308868.1:p.Ala18131Val |