COSMIC:
COSM3746770 (not active)
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.56255548 (EAS)
Genomes Max Group AF
0.54866765 (EAS)
Exomes Max Group AF
0.56252911 (EAS)
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.209795339C>A , CM000663.2:g.209795339C>A | GRCh38 |
| NC_000001.10:g.209968684C>A , CM000663.1:g.209968684C>A | GRCh37 |
| NC_000001.9:g.208035307C>A | NCBI36 |
| NG_007081.2:g.15796G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000696133.1:c.459G>T | ENSP00000512426.1:p.Ser153= | |
| ENST00000696134.1:c.459G>T | ENSP00000512427.1:p.Ser153= | |
| ENST00000367021.8:c.459G>T MANE Select | ENSP00000355988.3:p.Ser153= | |
| ENST00000643798.1:c.459G>T | ENSP00000496669.1:p.Ser153= | |
| ENST00000367021.7:c.459G>T | ENSP00000355988.3:p.Ser153= | |
| ENST00000456314.1:c.459G>T | ENSP00000403855.1:p.Ser153= | |
| ENST00000542854.5:c.174G>T | ENSP00000440532.1:p.Ser58= | |
| NM_001206696.1:c.174G>T | NP_001193625.1:p.Ser58= | |
| NM_006147.3:c.459G>T | NP_006138.1:p.Ser153= | |
| NM_006147.4:c.459G>T MANE Select | NP_006138.1:p.Ser153= | |
| NM_001206696.2:c.174G>T | NP_001193625.1:p.Ser58= |