COSMIC:
COSM149742 (not active)
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.55564071 (SAS)
Genomes Max Group AF
0.57424132 (SAS)
Exomes Max Group AF
0.55342261 (SAS)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.141719484A>G , CM000666.2:g.141719484A>G | GRCh38 |
| NC_000004.11:g.142640637A>G , CM000666.1:g.142640637A>G | GRCh37 |
| NC_000004.10:g.142860087A>G | NCBI36 |
| NG_029605.1:g.87889A>G | |
| NG_029605.2:g.87889A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000320650.9:c.12+8A>G MANE Select | ENSP00000323505.4:n.12+8A>G | |
| ENST00000296545.11:c.12+8A>G | ENSP00000296545.7:n.12+8A>G | |
| ENST00000320650.8:c.12+8A>G | ENSP00000323505.4:n.12+8A>G | |
| ENST00000477265.5:c.-189+8A>G | ENSP00000436914.1:n.-189+8A>G | |
| ENST00000505351.1:n.346+8A>G | ||
| ENST00000514653.5:c.-189+8A>G | ENSP00000422271.1:n.-189+8A>G | |
| ENST00000529613.5:c.12+8A>G | ENSP00000435462.1:n.12+8A>G | |
| NM_000585.4:c.12+8A>G | NP_000576.1:n.12+8A>G | |
| NM_172175.2:c.-189+8A>G | NP_751915.1:n.-189+8A>G | |
| NR_037840.2:n.862+8A>G | ||
| NM_000585.5:c.12+8A>G MANE Select | NP_000576.1:n.12+8A>G | |
| NM_172175.3:c.-189+8A>G | NP_751915.1:n.-189+8A>G | |
| NR_037840.3:n.875+8A>G |