COSMIC:
COSM3999989 (not active)
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.44012742 (AFR)
Genomes Max Group AF
0.43164171 (AFR)
Exomes Max Group AF
0.44696217 (AFR)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.89920200A>G , CM000678.2:g.89920200A>G | GRCh38 |
| NC_000016.9:g.89986608A>G , CM000678.1:g.89986608A>G | GRCh37 |
| NC_000016.8:g.88514109A>G | NCBI36 |
| NG_012026.1:g.7322A>G | |
| NG_027810.1:g.3192A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000555147.2:c.942A>G MANE Select | ENSP00000451605.1:p.Thr314= | |
| ENST00000639847.1:c.942A>G | ENSP00000492011.1:p.Thr314= | |
| ENST00000555147.1:c.942A>G | ENSP00000451605.1:p.Thr314= | |
| ENST00000555427.1:c.942A>G | ENSP00000451760.1:p.Thr314= | |
| ENST00000556922.1:c.942A>G | ENSP00000451560.1:p.Thr314= | |
| NM_002386.3:c.942A>G | NP_002377.4:p.Thr314= | |
| NM_002386.4:c.942A>G MANE Select | NP_002377.4:p.Thr314= |