gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00156842 (EAS)
Genomes Max Group AF
0.00050312 (EAS)
Exomes Max Group AF
0.00163658 (EAS)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.41818270C>T , CM000679.2:g.41818270C>T | GRCh38 |
| NC_000017.10:g.39974522C>T , CM000679.1:g.39974522C>T | GRCh37 |
| NC_000017.9:g.37228048C>T | NCBI36 |
| NG_015860.1:g.10561C>T , LRG_12:g.10561C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000706683.1:c.573C>T | ENSP00000516497.1:p.Phe191= | |
| ENST00000321562.9:c.573C>T MANE Select | ENSP00000317232.4:p.Phe191= | |
| ENST00000321562.8:c.573C>T | ENSP00000317232.4:p.Phe191= | |
| ENST00000489591.5:c.427C>T | ENSP00000466352.1:p.Arg143Ter | |
| ENST00000585664.5:c.393C>T | ENSP00000468703.1:p.Phe131= | |
| NM_021939.3:c.573C>T , LRG_12t1:c.573C>T | NP_068758.3:p.Phe191= | |
| XM_011525099.1:c.573C>T | XP_011523401.1:p.Phe191= | |
| XM_011525100.1:c.300C>T | XP_011523402.1:p.Phe100= | |
| XM_011525099.3:c.573C>T | XP_011523401.1:p.Phe191= | |
| XM_011525100.2:c.300C>T | XP_011523402.1:p.Phe100= | |
| NM_021939.4:c.573C>T MANE Select | NP_068758.3:p.Phe191= |