gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.14455561 (NFE)
Genomes Max Group AF
0.13587863 (NFE)
Exomes Max Group AF
0.14496039 (NFE)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.44892887C>T , CM000681.2:g.44892887C>T | GRCh38 |
| NC_000019.9:g.45396144C>T , CM000681.1:g.45396144C>T | GRCh37 |
| NC_000019.8:g.50087984C>T | NCBI36 |
| NG_042854.1:g.6668C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000426677.7:c.393C>T MANE Select | ENSP00000410339.1:p.Phe131= | |
| ENST00000252487.9:c.393C>T | ENSP00000252487.4:p.Phe131= | |
| ENST00000405636.6:c.393C>T | ENSP00000385184.2:p.Phe131= | |
| ENST00000426677.6:c.393C>T | ENSP00000410339.1:p.Phe131= | |
| ENST00000589649.1:c.393C>T | ENSP00000465032.1:p.Phe131= | |
| ENST00000592434.5:c.393C>T | ENSP00000466084.1:p.Phe131= | |
| NM_001128916.1:c.393C>T | NP_001122388.1:p.Phe131= | |
| NM_001128917.1:c.393C>T | NP_001122389.1:p.Phe131= | |
| NM_006114.2:c.393C>T | NP_006105.1:p.Phe131= | |
| XM_005258411.2:c.393C>T | XP_005258468.1:p.Phe131= | |
| XM_005258411.4:c.393C>T | XP_005258468.1:p.Phe131= | |
| NM_001128917.2:c.393C>T MANE Select | NP_001122389.1:p.Phe131= | |
| NM_006114.3:c.393C>T | NP_006105.1:p.Phe131= | |
| NM_001128916.2:c.393C>T | NP_001122388.1:p.Phe131= |