Linked Data
ClinVar Variation Id:
512644
dbSNP Id:
rs555476312
ExAC:
2:179395209 G / A
gnomAD v2:
2-179395209-G-A
gnomAD v3:
2-178530482-G-A
gnomAD v4:
2-178530482-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178530482G>A , CM000664.2:g.178530482G>A | GRCh38 |
| NC_000002.11:g.179395209G>A , CM000664.1:g.179395209G>A | GRCh37 |
| NC_000002.10:g.179103455G>A | NCBI36 |
| NG_011618.3:g.305321C>T , LRG_391:g.305321C>T | |
| NG_051363.1:g.12656G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.98429C>T (TTN) | ENSP00000343764.6:p.Ala32810Val | |
| ENST00000342175.11:c.79514C>T (TTN) | ENSP00000340554.6:p.Ala26505Val | |
| ENST00000359218.10:c.79313C>T (TTN) | ENSP00000352154.5:p.Ala26438Val | |
| ENST00000342175.10:c.79514C>T (TTN) | ENSP00000340554.6:p.Ala26505Val | |
| ENST00000342992.10:c.98429C>T (TTN) | ENSP00000343764.6:p.Ala32810Val | |
| ENST00000359218.9:c.79313C>T (TTN) | ENSP00000352154.5:p.Ala26438Val | |
| ENST00000460472.6:c.78938C>T (TTN) | ENSP00000434586.1:p.Ala26313Val | |
| ENST00000589042.5:c.106133C>T (TTN) MANE Select | ENSP00000467141.1:p.Ala35378Val | |
| ENST00000591111.5:c.101210C>T (TTN) | ENSP00000465570.1:p.Ala33737Val | |
| ENST00000615779.4:c.101210C>T (TTN) | ENSP00000483597.1:p.Ala33737Val | |
| NM_001256850.1:c.101210C>T (TTN) | NP_001243779.1:p.Ala33737Val | |
| NM_001267550.2:c.106133C>T (TTN) MANE Select | NP_001254479.2:p.Ala35378Val | |
| NM_003319.4:c.78938C>T (TTN) | NP_003310.4:p.Ala26313Val | |
| NM_133378.4:c.98429C>T (TTN) | NP_596869.4:p.Ala32810Val | |
| NM_133432.3:c.79313C>T (TTN) | NP_597676.3:p.Ala26438Val | |
| NM_133437.4:c.79514C>T (TTN) | NP_597681.4:p.Ala26505Val | |
| NR_038271.1:n.446+6846G>A (TTN-AS1) | ||
| NR_038272.1:n.220-5250G>A (TTN-AS1) | ||
| XM_011511729.1:c.105230C>T (TTN) | XP_011510031.1:p.Ala35077Val | |
| XM_011511730.1:c.79124C>T (TTN) | XP_011510032.1:p.Ala26375Val | |
| XM_011511731.1:c.78983C>T (TTN) | XP_011510033.1:p.Ala26328Val | |
| XM_017004819.1:c.105026C>T (TTN) | XP_016860308.1:p.Ala35009Val | |
| XM_017004820.1:c.100424C>T (TTN) | XP_016860309.1:p.Ala33475Val | |
| XM_017004821.1:c.100421C>T (TTN) | XP_016860310.1:p.Ala33474Val | |
| XM_017004822.1:c.97463C>T (TTN) | XP_016860311.1:p.Ala32488Val | |
| XM_017004823.1:c.79079C>T (TTN) | XP_016860312.1:p.Ala26360Val | |
| XM_024453094.1:c.100574C>T (TTN) | XP_024308862.1:p.Ala33525Val | |
| XM_024453095.1:c.100571C>T (TTN) | XP_024308863.1:p.Ala33524Val | |
| XM_024453096.1:c.100004C>T (TTN) | XP_024308864.1:p.Ala33335Val | |
| XM_024453097.1:c.97346C>T (TTN) | XP_024308865.1:p.Ala32449Val | |
| XM_024453098.1:c.97265C>T (TTN) | XP_024308866.1:p.Ala32422Val | |
| XM_024453099.1:c.79028C>T (TTN) | XP_024308867.1:p.Ala26343Val | |
| XM_024453100.1:c.68882C>T (TTN) | XP_024308868.1:p.Ala22961Val |