ClinVar RCV:
ClinVar Variation:
COSMIC:
COSM4006860
dbSNP:
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.4540125 (MID)
Genomes Max Group AF
0.44674143 (NFE)
Exomes Max Group AF
0.45566893 (MID)
Revel Score:
ENST00000323110 (MANE Select)
0.035
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.142915123T>C , CM000670.2:g.142915123T>C | GRCh38 |
| NC_000008.10:g.143996539T>C , CM000670.1:g.143996539T>C | GRCh37 |
| NC_000008.9:g.143993541T>C | NCBI36 |
| NG_008374.1:g.7721A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000323110.2:c.518A>G (CYP11B2) MANE Select | ENSP00000325822.2:p.Lys173Arg | |
| ENST00000522728.5:c.264+1078T>C (GML) | ENSP00000430799.1:n.264+1078T>C | |
| NM_000498.3:c.518A>G (CYP11B2) MANE Select | NP_000489.3:p.Lys173Arg | |
| XM_011516877.1:c.596A>G (CYP11B2) | XP_011515179.1:p.Lys199Arg | |
| XM_011516878.1:c.596A>G (CYP11B2) | XP_011515180.1:p.Lys199Arg | |
| XM_011516879.1:c.518A>G (CYP11B2) | XP_011515181.1:p.Lys173Arg | |
| XM_011516970.1:c.297+1078T>C (GML) | XP_011515272.1:n.297+1078T>C |