gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00104602 (EAS)
Genomes Max Group AF
0.00063237 (EAS)
Exomes Max Group AF
0.00102526 (EAS)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.92021706G>A , CM000676.2:g.92021706G>A | GRCh38 |
| NC_000014.8:g.92488050G>A , CM000676.1:g.92488050G>A | GRCh37 |
| NC_000014.7:g.91557803G>A | NCBI36 |
| NG_016970.1:g.23354C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000267622.8:c.438C>T MANE Select | ENSP00000267622.4:p.Phe146= | |
| ENST00000555516.6:c.-46C>T | ENSP00000451944.1:n.-46C>T | |
| NM_004239.3:c.438C>T | NP_004230.2:p.Phe146= | |
| XM_005268215.2:c.438C>T | XP_005268272.1:p.Phe146= | |
| XM_006720321.2:c.435C>T | XP_006720384.1:p.Phe145= | |
| XM_011537361.1:c.438C>T | XP_011535663.1:p.Phe146= | |
| XR_943560.1:n.893C>T | ||
| NM_001321851.1:c.435C>T | NP_001308780.1:p.Phe145= | |
| NM_004239.4:c.438C>T MANE Select | NP_004230.2:p.Phe146= | |
| XM_017021787.2:c.-309C>T | XP_016877276.1:n.-309C>T | |
| XM_017021788.2:c.-761C>T | XP_016877277.1:n.-761C>T | |
| XR_001750598.2:n.887C>T | ||
| XR_943560.2:n.887C>T |