ClinVar Variation:
COSMIC:
dbSNP:
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00011531 (AMR)
Genomes Max Group AF
0.00017009 (AMR)
Exomes Max Group AF
0.00008532 (NFE)
Revel Score:
ENST00000323110 (MANE Select)
0.601
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.142915047T>G , CM000670.2:g.142915047T>G | GRCh38 |
| NC_000008.10:g.143996463T>G , CM000670.1:g.143996463T>G | GRCh37 |
| NC_000008.9:g.143993465T>G | NCBI36 |
| NG_008374.1:g.7797A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000323110.2:c.594A>C (CYP11B2) MANE Select | ENSP00000325822.2:p.Glu198Asp | |
| ENST00000522728.5:c.264+1002T>G (GML) | ENSP00000430799.1:n.264+1002T>G | |
| NM_000498.3:c.594A>C (CYP11B2) MANE Select | NP_000489.3:p.Glu198Asp | |
| XM_011516877.1:c.672A>C (CYP11B2) | XP_011515179.1:p.Glu224Asp | |
| XM_011516878.1:c.672A>C (CYP11B2) | XP_011515180.1:p.Glu224Asp | |
| XM_011516879.1:c.594A>C (CYP11B2) | XP_011515181.1:p.Glu198Asp | |
| XM_011516970.1:c.297+1002T>G (GML) | XP_011515272.1:n.297+1002T>G |