gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.14543404 (AFR)
Genomes Max Group AF
0.14067344 (AFR)
Exomes Max Group AF
0.14922696 (AFR)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.22731537C>T , CM000669.2:g.22731537C>T | GRCh38 |
| NC_000007.13:g.22771156C>T , CM000669.1:g.22771156C>T | GRCh37 |
| NC_000007.12:g.22737681C>T | NCBI36 |
| NG_011640.1:g.9391C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000258743.10:c.603C>T MANE Select | ENSP00000258743.5:p.Phe201= | |
| ENST00000258743.9:c.603C>T | ENSP00000258743.5:p.Phe201= | |
| ENST00000401630.7:c.534C>T | ENSP00000384928.3:p.Phe178= | |
| ENST00000404625.5:c.603C>T | ENSP00000385675.1:p.Phe201= | |
| ENST00000407492.5:c.375C>T | ENSP00000385043.1:p.Phe125= | |
| ENST00000485300.1:n.828C>T | ||
| NM_000600.3:c.603C>T | NP_000591.1:p.Phe201= | |
| XM_011515390.1:c.603C>T | XP_011513692.1:p.Phe201= | |
| XM_011515391.1:c.375C>T | XP_011513693.1:p.Phe125= | |
| NM_000600.4:c.603C>T | NP_000591.1:p.Phe201= | |
| NM_001318095.1:c.375C>T | NP_001305024.1:p.Phe125= | |
| XM_011515390.2:c.603C>T | XP_011513692.1:p.Phe201= | |
| NM_000600.5:c.603C>T MANE Select | NP_000591.1:p.Phe201= | |
| NM_001318095.2:c.375C>T | NP_001305024.1:p.Phe125= | |
| NM_001371096.1:c.534C>T | NP_001358025.1:p.Phe178= |