Linked Data
ClinVar Variation Id:
448799
dbSNP Id:
rs775513269
ExAC:
2:179482054 T / G
gnomAD v2:
2-179482054-T-G
gnomAD v3:
2-178617327-T-G
gnomAD v4:
2-178617327-T-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178617327T>G , CM000664.2:g.178617327T>G | GRCh38 |
| NC_000002.11:g.179482054T>G , CM000664.1:g.179482054T>G | GRCh37 |
| NC_000002.10:g.179190299T>G | NCBI36 |
| NG_011618.3:g.218476A>C , LRG_391:g.218476A>C | |
| NG_051363.1:g.99501T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.40054A>C (TTN) | ENSP00000343764.6:p.Lys13352Gln | |
| ENST00000342175.11:c.21139A>C (TTN) | ENSP00000340554.6:p.Lys7047Gln | |
| ENST00000359218.10:c.20938A>C (TTN) | ENSP00000352154.5:p.Lys6980Gln | |
| ENST00000342175.10:c.21139A>C (TTN) | ENSP00000340554.6:p.Lys7047Gln | |
| ENST00000342992.10:c.40054A>C (TTN) | ENSP00000343764.6:p.Lys13352Gln | |
| ENST00000359218.9:c.20938A>C (TTN) | ENSP00000352154.5:p.Lys6980Gln | |
| ENST00000460472.6:c.20563A>C (TTN) | ENSP00000434586.1:p.Lys6855Gln | |
| ENST00000589042.5:c.47758A>C (TTN) MANE Select | ENSP00000467141.1:p.Lys15920Gln | |
| ENST00000591111.5:c.42835A>C (TTN) | ENSP00000465570.1:p.Lys14279Gln | |
| ENST00000615779.4:c.42835A>C (TTN) | ENSP00000483597.1:p.Lys14279Gln | |
| NM_001256850.1:c.42835A>C (TTN) | NP_001243779.1:p.Lys14279Gln | |
| NM_001267550.2:c.47758A>C (TTN) MANE Select | NP_001254479.2:p.Lys15920Gln | |
| NM_003319.4:c.20563A>C (TTN) | NP_003310.4:p.Lys6855Gln | |
| NM_133378.4:c.40054A>C (TTN) | NP_596869.4:p.Lys13352Gln | |
| NM_133432.3:c.20938A>C (TTN) | NP_597676.3:p.Lys6980Gln | |
| NM_133437.4:c.21139A>C (TTN) | NP_597681.4:p.Lys7047Gln | |
| NR_038271.1:n.1604+1953T>G (TTN-AS1) | ||
| XM_011511729.1:c.46855A>C (TTN) | XP_011510031.1:p.Lys15619Gln | |
| XM_011511730.1:c.20749A>C (TTN) | XP_011510032.1:p.Lys6917Gln | |
| XM_011511731.1:c.20608A>C (TTN) | XP_011510033.1:p.Lys6870Gln | |
| XM_017004819.1:c.46651A>C (TTN) | XP_016860308.1:p.Lys15551Gln | |
| XM_017004820.1:c.42049A>C (TTN) | XP_016860309.1:p.Lys14017Gln | |
| XM_017004821.1:c.42046A>C (TTN) | XP_016860310.1:p.Lys14016Gln | |
| XM_017004822.1:c.39088A>C (TTN) | XP_016860311.1:p.Lys13030Gln | |
| XM_017004823.1:c.20704A>C (TTN) | XP_016860312.1:p.Lys6902Gln | |
| XM_024453094.1:c.42199A>C (TTN) | XP_024308862.1:p.Lys14067Gln | |
| XM_024453095.1:c.42196A>C (TTN) | XP_024308863.1:p.Lys14066Gln | |
| XM_024453096.1:c.41629A>C (TTN) | XP_024308864.1:p.Lys13877Gln | |
| XM_024453097.1:c.38971A>C (TTN) | XP_024308865.1:p.Lys12991Gln | |
| XM_024453098.1:c.38890A>C (TTN) | XP_024308866.1:p.Lys12964Gln | |
| XM_024453099.1:c.20653A>C (TTN) | XP_024308867.1:p.Lys6885Gln | |
| XM_024453100.1:c.10507A>C (TTN) | XP_024308868.1:p.Lys3503Gln |