Linked Data
ClinVar Variation Id:
229449
dbSNP Id:
rs377289817
ExAC:
2:179476198 G / C
gnomAD v2:
2-179476198-G-C
gnomAD v3:
2-178611471-G-C
gnomAD v4:
2-178611471-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178611471G>C , CM000664.2:g.178611471G>C | GRCh38 |
| NC_000002.11:g.179476198G>C , CM000664.1:g.179476198G>C | GRCh37 |
| NC_000002.10:g.179184443G>C | NCBI36 |
| NG_011618.3:g.224332C>G , LRG_391:g.224332C>G | |
| NG_051363.1:g.93645G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.43054C>G (TTN) | ENSP00000343764.6:p.Pro14352Ala | |
| ENST00000342175.11:c.24139C>G (TTN) | ENSP00000340554.6:p.Pro8047Ala | |
| ENST00000359218.10:c.23938C>G (TTN) | ENSP00000352154.5:p.Pro7980Ala | |
| ENST00000342175.10:c.24139C>G (TTN) | ENSP00000340554.6:p.Pro8047Ala | |
| ENST00000342992.10:c.43054C>G (TTN) | ENSP00000343764.6:p.Pro14352Ala | |
| ENST00000359218.9:c.23938C>G (TTN) | ENSP00000352154.5:p.Pro7980Ala | |
| ENST00000460472.6:c.23563C>G (TTN) | ENSP00000434586.1:p.Pro7855Ala | |
| ENST00000589042.5:c.50758C>G (TTN) MANE Select | ENSP00000467141.1:p.Pro16920Ala | |
| ENST00000591111.5:c.45835C>G (TTN) | ENSP00000465570.1:p.Pro15279Ala | |
| ENST00000615779.4:c.45835C>G (TTN) | ENSP00000483597.1:p.Pro15279Ala | |
| NM_001256850.1:c.45835C>G (TTN) | NP_001243779.1:p.Pro15279Ala | |
| NM_001267550.2:c.50758C>G (TTN) MANE Select | NP_001254479.2:p.Pro16920Ala | |
| NM_003319.4:c.23563C>G (TTN) | NP_003310.4:p.Pro7855Ala | |
| NM_133378.4:c.43054C>G (TTN) | NP_596869.4:p.Pro14352Ala | |
| NM_133432.3:c.23938C>G (TTN) | NP_597676.3:p.Pro7980Ala | |
| NM_133437.4:c.24139C>G (TTN) | NP_597681.4:p.Pro8047Ala | |
| NR_038271.1:n.783-2564G>C (TTN-AS1) | ||
| XM_011511729.1:c.49855C>G (TTN) | XP_011510031.1:p.Pro16619Ala | |
| XM_011511730.1:c.23749C>G (TTN) | XP_011510032.1:p.Pro7917Ala | |
| XM_011511731.1:c.23608C>G (TTN) | XP_011510033.1:p.Pro7870Ala | |
| XM_017004819.1:c.49651C>G (TTN) | XP_016860308.1:p.Pro16551Ala | |
| XM_017004820.1:c.45049C>G (TTN) | XP_016860309.1:p.Pro15017Ala | |
| XM_017004821.1:c.45046C>G (TTN) | XP_016860310.1:p.Pro15016Ala | |
| XM_017004822.1:c.42088C>G (TTN) | XP_016860311.1:p.Pro14030Ala | |
| XM_017004823.1:c.23704C>G (TTN) | XP_016860312.1:p.Pro7902Ala | |
| XM_024453094.1:c.45199C>G (TTN) | XP_024308862.1:p.Pro15067Ala | |
| XM_024453095.1:c.45196C>G (TTN) | XP_024308863.1:p.Pro15066Ala | |
| XM_024453096.1:c.44629C>G (TTN) | XP_024308864.1:p.Pro14877Ala | |
| XM_024453097.1:c.41971C>G (TTN) | XP_024308865.1:p.Pro13991Ala | |
| XM_024453098.1:c.41890C>G (TTN) | XP_024308866.1:p.Pro13964Ala | |
| XM_024453099.1:c.23653C>G (TTN) | XP_024308867.1:p.Pro7885Ala | |
| XM_024453100.1:c.13507C>G (TTN) | XP_024308868.1:p.Pro4503Ala |