COSMIC:
COSM4162722 (not active)
Revel Score:
ENST00000323110 (MANE Select)
0.338
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.14833303 (MID)
Genomes Max Group AF
0.11741498 (NFE)
Exomes Max Group AF
0.14715926 (MID)
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.142912850A>G , CM000670.2:g.142912850A>G | GRCh38 |
| NC_000008.10:g.143994266A>G , CM000670.1:g.143994266A>G | GRCh37 |
| NC_000008.9:g.143991268A>G | NCBI36 |
| NG_008374.1:g.9994T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000323110.2:c.1157T>C (CYP11B2) MANE Select | ENSP00000325822.2:p.Val386Ala | |
| ENST00000522728.5:c.182-1113A>G (GML) | ENSP00000430799.1:n.182-1113A>G | |
| NM_000498.3:c.1157T>C (CYP11B2) MANE Select | NP_000489.3:p.Val386Ala | |
| XM_011516877.1:c.1304T>C (CYP11B2) | XP_011515179.1:p.Val435Ala | |
| XM_011516878.1:c.1235T>C (CYP11B2) | XP_011515180.1:p.Val412Ala | |
| XM_011516879.1:c.1226T>C (CYP11B2) | XP_011515181.1:p.Val409Ala | |
| XM_011516970.1:c.215-1113A>G (GML) | XP_011515272.1:n.215-1113A>G |