COSMIC:
COSM3932680 (not active)
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.8977567 (AFR)
Genomes Max Group AF
0.89034757 (AFR)
Exomes Max Group AF
0.90193978 (AFR)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.59210093A>G , CM000679.2:g.59210093A>G | GRCh38 |
| NC_000017.10:g.57287454A>G , CM000679.1:g.57287454A>G | GRCh37 |
| NC_000017.9:g.54642236A>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000300917.10:c.42A>G MANE Select | ENSP00000300917.4:p.Ala14= | |
| ENST00000300917.9:c.42A>G | ENSP00000300917.4:p.Ala14= | |
| ENST00000543872.6:c.42A>G | ENSP00000438748.2:p.Ala14= | |
| ENST00000577660.1:c.136-4712A>G | ENSP00000464167.1:n.136-4712A>G | |
| ENST00000578922.1:c.42A>G | ENSP00000462119.1:p.Ala14= | |
| ENST00000580498.5:n.72A>G | ||
| NM_018149.6:c.42A>G | NP_060619.4:p.Ala14= | |
| NM_018149.7:c.42A>G MANE Select | NP_060619.4:p.Ala14= |