gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.03484418 (AFR)
Genomes Max Group AF
0.03433135 (AFR)
Exomes Max Group AF
0.03444306 (AFR)
ClinVar RCV:
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178617951C>T , CM000664.2:g.178617951C>T | GRCh38 |
| NC_000002.11:g.179482678C>T , CM000664.1:g.179482678C>T | GRCh37 |
| NC_000002.10:g.179190923C>T | NCBI36 |
| NG_011618.3:g.217852G>A , LRG_391:g.217852G>A | |
| NG_051363.1:g.100125C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.39696G>A (TTN) | ENSP00000343764.6:p.Lys13232= | |
| ENST00000342175.11:c.20781G>A (TTN) | ENSP00000340554.6:p.Lys6927= | |
| ENST00000359218.10:c.20580G>A (TTN) | ENSP00000352154.5:p.Lys6860= | |
| ENST00000342175.10:c.20781G>A (TTN) | ENSP00000340554.6:p.Lys6927= | |
| ENST00000342992.10:c.39696G>A (TTN) | ENSP00000343764.6:p.Lys13232= | |
| ENST00000359218.9:c.20580G>A (TTN) | ENSP00000352154.5:p.Lys6860= | |
| ENST00000460472.6:c.20205G>A (TTN) | ENSP00000434586.1:p.Lys6735= | |
| ENST00000589042.5:c.47400G>A (TTN) MANE Select | ENSP00000467141.1:p.Lys15800= | |
| ENST00000591111.5:c.42477G>A (TTN) | ENSP00000465570.1:p.Lys14159= | |
| ENST00000615779.4:c.42477G>A (TTN) | ENSP00000483597.1:p.Lys14159= | |
| NM_001256850.1:c.42477G>A (TTN) | NP_001243779.1:p.Lys14159= | |
| NM_001267550.2:c.47400G>A (TTN) MANE Select | NP_001254479.2:p.Lys15800= | |
| NM_003319.4:c.20205G>A (TTN) | NP_003310.4:p.Lys6735= | |
| NM_133378.4:c.39696G>A (TTN) | NP_596869.4:p.Lys13232= | |
| NM_133432.3:c.20580G>A (TTN) | NP_597676.3:p.Lys6860= | |
| NM_133437.4:c.20781G>A (TTN) | NP_597681.4:p.Lys6927= | |
| NR_038271.1:n.1605-1802C>T (TTN-AS1) | ||
| XM_011511729.1:c.46497G>A (TTN) | XP_011510031.1:p.Lys15499= | |
| XM_011511730.1:c.20391G>A (TTN) | XP_011510032.1:p.Lys6797= | |
| XM_011511731.1:c.20250G>A (TTN) | XP_011510033.1:p.Lys6750= | |
| XM_017004819.1:c.46293G>A (TTN) | XP_016860308.1:p.Lys15431= | |
| XM_017004820.1:c.41691G>A (TTN) | XP_016860309.1:p.Lys13897= | |
| XM_017004821.1:c.41688G>A (TTN) | XP_016860310.1:p.Lys13896= | |
| XM_017004822.1:c.38730G>A (TTN) | XP_016860311.1:p.Lys12910= | |
| XM_017004823.1:c.20346G>A (TTN) | XP_016860312.1:p.Lys6782= | |
| XM_024453094.1:c.41841G>A (TTN) | XP_024308862.1:p.Lys13947= | |
| XM_024453095.1:c.41838G>A (TTN) | XP_024308863.1:p.Lys13946= | |
| XM_024453096.1:c.41271G>A (TTN) | XP_024308864.1:p.Lys13757= | |
| XM_024453097.1:c.38613G>A (TTN) | XP_024308865.1:p.Lys12871= | |
| XM_024453098.1:c.38532G>A (TTN) | XP_024308866.1:p.Lys12844= | |
| XM_024453099.1:c.20295G>A (TTN) | XP_024308867.1:p.Lys6765= | |
| XM_024453100.1:c.10149G>A (TTN) | XP_024308868.1:p.Lys3383= |