Linked Data
ClinVar Variation Id:
203104
dbSNP Id:
rs555476312
ExAC:
2:179395209 G / C
gnomAD v2:
2-179395209-G-C
gnomAD v3:
2-178530482-G-C
gnomAD v4:
2-178530482-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178530482G>C , CM000664.2:g.178530482G>C | GRCh38 |
| NC_000002.11:g.179395209G>C , CM000664.1:g.179395209G>C | GRCh37 |
| NC_000002.10:g.179103455G>C | NCBI36 |
| NG_011618.3:g.305321C>G , LRG_391:g.305321C>G | |
| NG_051363.1:g.12656G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.98429C>G (TTN) | ENSP00000343764.6:p.Ala32810Gly | |
| ENST00000342175.11:c.79514C>G (TTN) | ENSP00000340554.6:p.Ala26505Gly | |
| ENST00000359218.10:c.79313C>G (TTN) | ENSP00000352154.5:p.Ala26438Gly | |
| ENST00000342175.10:c.79514C>G (TTN) | ENSP00000340554.6:p.Ala26505Gly | |
| ENST00000342992.10:c.98429C>G (TTN) | ENSP00000343764.6:p.Ala32810Gly | |
| ENST00000359218.9:c.79313C>G (TTN) | ENSP00000352154.5:p.Ala26438Gly | |
| ENST00000460472.6:c.78938C>G (TTN) | ENSP00000434586.1:p.Ala26313Gly | |
| ENST00000589042.5:c.106133C>G (TTN) MANE Select | ENSP00000467141.1:p.Ala35378Gly | |
| ENST00000591111.5:c.101210C>G (TTN) | ENSP00000465570.1:p.Ala33737Gly | |
| ENST00000615779.4:c.101210C>G (TTN) | ENSP00000483597.1:p.Ala33737Gly | |
| NM_001256850.1:c.101210C>G (TTN) | NP_001243779.1:p.Ala33737Gly | |
| NM_001267550.2:c.106133C>G (TTN) MANE Select | NP_001254479.2:p.Ala35378Gly | |
| NM_003319.4:c.78938C>G (TTN) | NP_003310.4:p.Ala26313Gly | |
| NM_133378.4:c.98429C>G (TTN) | NP_596869.4:p.Ala32810Gly | |
| NM_133432.3:c.79313C>G (TTN) | NP_597676.3:p.Ala26438Gly | |
| NM_133437.4:c.79514C>G (TTN) | NP_597681.4:p.Ala26505Gly | |
| NR_038271.1:n.446+6846G>C (TTN-AS1) | ||
| NR_038272.1:n.220-5250G>C (TTN-AS1) | ||
| XM_011511729.1:c.105230C>G (TTN) | XP_011510031.1:p.Ala35077Gly | |
| XM_011511730.1:c.79124C>G (TTN) | XP_011510032.1:p.Ala26375Gly | |
| XM_011511731.1:c.78983C>G (TTN) | XP_011510033.1:p.Ala26328Gly | |
| XM_017004819.1:c.105026C>G (TTN) | XP_016860308.1:p.Ala35009Gly | |
| XM_017004820.1:c.100424C>G (TTN) | XP_016860309.1:p.Ala33475Gly | |
| XM_017004821.1:c.100421C>G (TTN) | XP_016860310.1:p.Ala33474Gly | |
| XM_017004822.1:c.97463C>G (TTN) | XP_016860311.1:p.Ala32488Gly | |
| XM_017004823.1:c.79079C>G (TTN) | XP_016860312.1:p.Ala26360Gly | |
| XM_024453094.1:c.100574C>G (TTN) | XP_024308862.1:p.Ala33525Gly | |
| XM_024453095.1:c.100571C>G (TTN) | XP_024308863.1:p.Ala33524Gly | |
| XM_024453096.1:c.100004C>G (TTN) | XP_024308864.1:p.Ala33335Gly | |
| XM_024453097.1:c.97346C>G (TTN) | XP_024308865.1:p.Ala32449Gly | |
| XM_024453098.1:c.97265C>G (TTN) | XP_024308866.1:p.Ala32422Gly | |
| XM_024453099.1:c.79028C>G (TTN) | XP_024308867.1:p.Ala26343Gly | |
| XM_024453100.1:c.68882C>G (TTN) | XP_024308868.1:p.Ala22961Gly |