COSMIC:
COSM1178478 (not active)
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.29092944 (EAS)
Genomes Max Group AF
0.28203776 (EAS)
Exomes Max Group AF
0.29076784 (EAS)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.42406979G>A , CM000665.2:g.42406979G>A | GRCh38 |
| NC_000003.11:g.42448471G>A , CM000665.1:g.42448471G>A | GRCh37 |
| NC_000003.10:g.42423475G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000287748.8:c.159C>T MANE Select | ENSP00000287748.3:p.Phe53= | |
| ENST00000287748.7:c.159C>T | ENSP00000287748.3:p.Phe53= | |
| ENST00000441172.1:c.159C>T | ENSP00000387897.1:p.Phe53= | |
| ENST00000470991.1:n.189C>T | ||
| NM_001304386.1:c.159C>T | NP_001291315.1:p.Phe53= | |
| NM_144634.3:c.159C>T | NP_653235.1:p.Phe53= | |
| XM_011533355.1:c.159C>T | XP_011531657.1:p.Phe53= | |
| XM_011533355.3:c.159C>T | XP_011531657.1:p.Phe53= | |
| XM_017005706.1:c.159C>T | XP_016861195.1:p.Phe53= | |
| XM_024453345.1:c.159C>T | XP_024309113.1:p.Phe53= | |
| NM_144634.4:c.159C>T MANE Select | NP_653235.1:p.Phe53= | |
| NM_001304386.2:c.159C>T | NP_001291315.1:p.Phe53= |