gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00005283 (AFR)
Genomes Max Group AF
0.00001921 (AFR)
Exomes Max Group AF
0.00005852 (AFR)
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178565234A>G , CM000664.2:g.178565234A>G | GRCh38 |
| NC_000002.11:g.179429961A>G , CM000664.1:g.179429961A>G | GRCh37 |
| NC_000002.10:g.179138207A>G | NCBI36 |
| NG_011618.3:g.270569T>C , LRG_391:g.270569T>C | |
| NG_051363.1:g.47408A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.73194T>C (TTN) | ENSP00000343764.6:p.Ser24398= | |
| ENST00000342175.11:c.54279T>C (TTN) | ENSP00000340554.6:p.Ser18093= | |
| ENST00000359218.10:c.54078T>C (TTN) | ENSP00000352154.5:p.Ser18026= | |
| ENST00000342175.10:c.54279T>C (TTN) | ENSP00000340554.6:p.Ser18093= | |
| ENST00000342992.10:c.73194T>C (TTN) | ENSP00000343764.6:p.Ser24398= | |
| ENST00000359218.9:c.54078T>C (TTN) | ENSP00000352154.5:p.Ser18026= | |
| ENST00000460472.6:c.53703T>C (TTN) | ENSP00000434586.1:p.Ser17901= | |
| ENST00000589042.5:c.80898T>C (TTN) MANE Select | ENSP00000467141.1:p.Ser26966= | |
| ENST00000591111.5:c.75975T>C (TTN) | ENSP00000465570.1:p.Ser25325= | |
| ENST00000615779.4:c.75975T>C (TTN) | ENSP00000483597.1:p.Ser25325= | |
| NM_001256850.1:c.75975T>C (TTN) | NP_001243779.1:p.Ser25325= | |
| NM_001267550.2:c.80898T>C (TTN) MANE Select | NP_001254479.2:p.Ser26966= | |
| NM_003319.4:c.53703T>C (TTN) | NP_003310.4:p.Ser17901= | |
| NM_133378.4:c.73194T>C (TTN) | NP_596869.4:p.Ser24398= | |
| NM_133432.3:c.54078T>C (TTN) | NP_597676.3:p.Ser18026= | |
| NM_133437.4:c.54279T>C (TTN) | NP_597681.4:p.Ser18093= | |
| NR_038271.1:n.447-6066A>G (TTN-AS1) | ||
| NR_038272.1:n.2044-17338A>G (TTN-AS1) | ||
| XM_011511729.1:c.79995T>C (TTN) | XP_011510031.1:p.Ser26665= | |
| XM_011511730.1:c.53889T>C (TTN) | XP_011510032.1:p.Ser17963= | |
| XM_011511731.1:c.53748T>C (TTN) | XP_011510033.1:p.Ser17916= | |
| XM_017004819.1:c.79791T>C (TTN) | XP_016860308.1:p.Ser26597= | |
| XM_017004820.1:c.75189T>C (TTN) | XP_016860309.1:p.Ser25063= | |
| XM_017004821.1:c.75186T>C (TTN) | XP_016860310.1:p.Ser25062= | |
| XM_017004822.1:c.72228T>C (TTN) | XP_016860311.1:p.Ser24076= | |
| XM_017004823.1:c.53844T>C (TTN) | XP_016860312.1:p.Ser17948= | |
| XM_024453094.1:c.75339T>C (TTN) | XP_024308862.1:p.Ser25113= | |
| XM_024453095.1:c.75336T>C (TTN) | XP_024308863.1:p.Ser25112= | |
| XM_024453096.1:c.74769T>C (TTN) | XP_024308864.1:p.Ser24923= | |
| XM_024453097.1:c.72111T>C (TTN) | XP_024308865.1:p.Ser24037= | |
| XM_024453098.1:c.72030T>C (TTN) | XP_024308866.1:p.Ser24010= | |
| XM_024453099.1:c.53793T>C (TTN) | XP_024308867.1:p.Ser17931= | |
| XM_024453100.1:c.43647T>C (TTN) | XP_024308868.1:p.Ser14549= |