gnomAD v2:
gnomAD v4:
Joint Max Group AF
0.00001944 (EAS)
Exomes Max Group AF
0.00002226 (EAS)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.46673194C>T , CM000663.2:g.46673194C>T | GRCh38 |
| NC_000001.10:g.47138866C>T , CM000663.1:g.47138866C>T | GRCh37 |
| NC_000001.9:g.46911453C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000334122.5:c.359C>T (TEX38) MANE Select | ENSP00000455854.1:p.Pro120Leu | |
| ENST00000334122.4:c.359C>T (TEX38) | ENSP00000455854.1:p.Pro120Leu | |
| ENST00000415500.1:c.131C>T (TEX38) | ENSP00000456892.1:p.Pro44Leu | |
| ENST00000525633.1:n.314+360G>A (ATPAF1) | ||
| ENST00000564071.1:c.362C>T (TEX38) | ENSP00000457220.1:p.Pro121Leu | |
| ENST00000564373.1:c.197C>T (TEX38) | ENSP00000456524.1:p.Pro66Leu | |
| NM_001145474.3:c.359C>T (TEX38) | NP_001138946.1:p.Pro120Leu | |
| NM_001300863.1:c.197C>T (TEX38) | NP_001287792.1:p.Pro66Leu | |
| NM_001300864.1:c.131C>T (TEX38) | NP_001287793.1:p.Pro44Leu | |
| XM_011541421.1:c.362C>T (TEX38) | XP_011539723.1:p.Pro121Leu | |
| XM_011541421.3:c.362C>T (TEX38) | XP_011539723.1:p.Pro121Leu | |
| NM_001145474.4:c.359C>T (TEX38) MANE Select | NP_001138946.1:p.Pro120Leu | |
| NM_001300863.2:c.197C>T (TEX38) | NP_001287792.1:p.Pro66Leu | |
| NM_001300864.2:c.131C>T (TEX38) | NP_001287793.1:p.Pro44Leu |