gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00053243 (AMR)
Genomes Max Group AF
0.00081499 (AMR)
Exomes Max Group AF
0.00035098 (AMR)
ClinVar RCV:
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178566191T>C , CM000664.2:g.178566191T>C | GRCh38 |
| NC_000002.11:g.179430918T>C , CM000664.1:g.179430918T>C | GRCh37 |
| NC_000002.10:g.179139164T>C | NCBI36 |
| NG_011618.3:g.269612A>G , LRG_391:g.269612A>G | |
| NG_051363.1:g.48365T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.72237A>G (TTN) | ENSP00000343764.6:p.Gln24079= | |
| ENST00000342175.11:c.53322A>G (TTN) | ENSP00000340554.6:p.Gln17774= | |
| ENST00000359218.10:c.53121A>G (TTN) | ENSP00000352154.5:p.Gln17707= | |
| ENST00000342175.10:c.53322A>G (TTN) | ENSP00000340554.6:p.Gln17774= | |
| ENST00000342992.10:c.72237A>G (TTN) | ENSP00000343764.6:p.Gln24079= | |
| ENST00000359218.9:c.53121A>G (TTN) | ENSP00000352154.5:p.Gln17707= | |
| ENST00000460472.6:c.52746A>G (TTN) | ENSP00000434586.1:p.Gln17582= | |
| ENST00000589042.5:c.79941A>G (TTN) MANE Select | ENSP00000467141.1:p.Gln26647= | |
| ENST00000591111.5:c.75018A>G (TTN) | ENSP00000465570.1:p.Gln25006= | |
| ENST00000615779.4:c.75018A>G (TTN) | ENSP00000483597.1:p.Gln25006= | |
| NM_001256850.1:c.75018A>G (TTN) | NP_001243779.1:p.Gln25006= | |
| NM_001267550.2:c.79941A>G (TTN) MANE Select | NP_001254479.2:p.Gln26647= | |
| NM_003319.4:c.52746A>G (TTN) | NP_003310.4:p.Gln17582= | |
| NM_133378.4:c.72237A>G (TTN) | NP_596869.4:p.Gln24079= | |
| NM_133432.3:c.53121A>G (TTN) | NP_597676.3:p.Gln17707= | |
| NM_133437.4:c.53322A>G (TTN) | NP_597681.4:p.Gln17774= | |
| NR_038271.1:n.447-5109T>C (TTN-AS1) | ||
| NR_038272.1:n.2044-16381T>C (TTN-AS1) | ||
| XM_011511729.1:c.79038A>G (TTN) | XP_011510031.1:p.Gln26346= | |
| XM_011511730.1:c.52932A>G (TTN) | XP_011510032.1:p.Gln17644= | |
| XM_011511731.1:c.52791A>G (TTN) | XP_011510033.1:p.Gln17597= | |
| XM_017004819.1:c.78834A>G (TTN) | XP_016860308.1:p.Gln26278= | |
| XM_017004820.1:c.74232A>G (TTN) | XP_016860309.1:p.Gln24744= | |
| XM_017004821.1:c.74229A>G (TTN) | XP_016860310.1:p.Gln24743= | |
| XM_017004822.1:c.71271A>G (TTN) | XP_016860311.1:p.Gln23757= | |
| XM_017004823.1:c.52887A>G (TTN) | XP_016860312.1:p.Gln17629= | |
| XM_024453094.1:c.74382A>G (TTN) | XP_024308862.1:p.Gln24794= | |
| XM_024453095.1:c.74379A>G (TTN) | XP_024308863.1:p.Gln24793= | |
| XM_024453096.1:c.73812A>G (TTN) | XP_024308864.1:p.Gln24604= | |
| XM_024453097.1:c.71154A>G (TTN) | XP_024308865.1:p.Gln23718= | |
| XM_024453098.1:c.71073A>G (TTN) | XP_024308866.1:p.Gln23691= | |
| XM_024453099.1:c.52836A>G (TTN) | XP_024308867.1:p.Gln17612= | |
| XM_024453100.1:c.42690A>G (TTN) | XP_024308868.1:p.Gln14230= |