Linked Data
ClinVar Variation Id:
332741
dbSNP Id:
rs763682832
ExAC:
2:179422752 G / A
gnomAD v2:
2-179422752-G-A
gnomAD v3:
2-178558025-G-A
gnomAD v4:
2-178558025-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178558025G>A , CM000664.2:g.178558025G>A | GRCh38 |
| NC_000002.11:g.179422752G>A , CM000664.1:g.179422752G>A | GRCh37 |
| NC_000002.10:g.179130998G>A | NCBI36 |
| NG_011618.3:g.277778C>T , LRG_391:g.277778C>T | |
| NG_051363.1:g.40199G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.79625C>T (TTN) | ENSP00000343764.6:p.Ala26542Val | |
| ENST00000342175.11:c.60710C>T (TTN) | ENSP00000340554.6:p.Ala20237Val | |
| ENST00000359218.10:c.60509C>T (TTN) | ENSP00000352154.5:p.Ala20170Val | |
| ENST00000342175.10:c.60710C>T (TTN) | ENSP00000340554.6:p.Ala20237Val | |
| ENST00000342992.10:c.79625C>T (TTN) | ENSP00000343764.6:p.Ala26542Val | |
| ENST00000359218.9:c.60509C>T (TTN) | ENSP00000352154.5:p.Ala20170Val | |
| ENST00000460472.6:c.60134C>T (TTN) | ENSP00000434586.1:p.Ala20045Val | |
| ENST00000589042.5:c.87329C>T (TTN) MANE Select | ENSP00000467141.1:p.Ala29110Val | |
| ENST00000591111.5:c.82406C>T (TTN) | ENSP00000465570.1:p.Ala27469Val | |
| ENST00000615779.4:c.82406C>T (TTN) | ENSP00000483597.1:p.Ala27469Val | |
| NM_001256850.1:c.82406C>T (TTN) | NP_001243779.1:p.Ala27469Val | |
| NM_001267550.2:c.87329C>T (TTN) MANE Select | NP_001254479.2:p.Ala29110Val | |
| NM_003319.4:c.60134C>T (TTN) | NP_003310.4:p.Ala20045Val | |
| NM_133378.4:c.79625C>T (TTN) | NP_596869.4:p.Ala26542Val | |
| NM_133432.3:c.60509C>T (TTN) | NP_597676.3:p.Ala20170Val | |
| NM_133437.4:c.60710C>T (TTN) | NP_597681.4:p.Ala20237Val | |
| NR_038271.1:n.447-13275G>A (TTN-AS1) | ||
| NR_038272.1:n.2043+15664G>A (TTN-AS1) | ||
| XM_011511729.1:c.86426C>T (TTN) | XP_011510031.1:p.Ala28809Val | |
| XM_011511730.1:c.60320C>T (TTN) | XP_011510032.1:p.Ala20107Val | |
| XM_011511731.1:c.60179C>T (TTN) | XP_011510033.1:p.Ala20060Val | |
| XM_017004819.1:c.86222C>T (TTN) | XP_016860308.1:p.Ala28741Val | |
| XM_017004820.1:c.81620C>T (TTN) | XP_016860309.1:p.Ala27207Val | |
| XM_017004821.1:c.81617C>T (TTN) | XP_016860310.1:p.Ala27206Val | |
| XM_017004822.1:c.78659C>T (TTN) | XP_016860311.1:p.Ala26220Val | |
| XM_017004823.1:c.60275C>T (TTN) | XP_016860312.1:p.Ala20092Val | |
| XM_024453094.1:c.81770C>T (TTN) | XP_024308862.1:p.Ala27257Val | |
| XM_024453095.1:c.81767C>T (TTN) | XP_024308863.1:p.Ala27256Val | |
| XM_024453096.1:c.81200C>T (TTN) | XP_024308864.1:p.Ala27067Val | |
| XM_024453097.1:c.78542C>T (TTN) | XP_024308865.1:p.Ala26181Val | |
| XM_024453098.1:c.78461C>T (TTN) | XP_024308866.1:p.Ala26154Val | |
| XM_024453099.1:c.60224C>T (TTN) | XP_024308867.1:p.Ala20075Val | |
| XM_024453100.1:c.50078C>T (TTN) | XP_024308868.1:p.Ala16693Val |