COSMIC:
COSM5486116 (not active)
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.17302063 (AFR)
Genomes Max Group AF
0.16949495 (AFR)
Exomes Max Group AF
0.17508974 (AFR)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.9838476G>A , CM000681.2:g.9838476G>A | GRCh38 |
| NC_000019.9:g.9949152G>A , CM000681.1:g.9949152G>A | GRCh37 |
| NC_000019.8:g.9810152G>A | NCBI36 |
| NG_029167.1:g.8270G>A , LRG_847:g.8270G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000247970.9:c.99G>A MANE Select | ENSP00000247970.5:p.Gln33= | |
| ENST00000247970.8:c.99G>A | ENSP00000247970.4:p.Gln33= | |
| ENST00000380889.6:n.1132G>A | ||
| ENST00000585442.5:n.237G>A | ||
| ENST00000586025.5:n.3146G>A | ||
| ENST00000586352.5:c.162G>A | ||
| ENST00000587625.5:c.99G>A | ENSP00000466656.1:p.Gln33= | |
| ENST00000588695.5:c.99G>A | ENSP00000466962.1:p.Gln33= | |
| ENST00000589058.5:n.128G>A | ||
| ENST00000590540.5:n.157G>A | ||
| NM_006221.3:c.99G>A , LRG_847t1:c.99G>A | NP_006212.1:p.Gln33= | |
| NR_038422.2:n.290G>A | ||
| NR_038830.1:n.290G>A | ||
| XM_011528068.1:c.114G>A | XP_011526370.1:p.Gln38= | |
| XM_011528068.2:c.114G>A | XP_011526370.1:p.Gln38= | |
| NM_006221.4:c.99G>A MANE Select | NP_006212.1:p.Gln33= | |
| NR_038830.2:n.179G>A | ||
| NR_038422.3:n.179G>A |