Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.142912557C>G , CM000670.2:g.142912557C>G | GRCh38 |
| NC_000008.10:g.143993973C>G , CM000670.1:g.143993973C>G | GRCh37 |
| NC_000008.9:g.143990975C>G | NCBI36 |
| NG_008374.1:g.10287G>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000323110.2:c.1371G>C (CYP11B2) MANE Select | ENSP00000325822.2:p.Glu457Asp | |
| ENST00000522728.5:c.182-1406C>G (GML) | ENSP00000430799.1:n.182-1406C>G | |
| NM_000498.3:c.1371G>C (CYP11B2) MANE Select | NP_000489.3:p.Glu457Asp | |
| XM_011516877.1:c.1518G>C (CYP11B2) | XP_011515179.1:p.Glu506Asp | |
| XM_011516878.1:c.1449G>C (CYP11B2) | XP_011515180.1:p.Glu483Asp | |
| XM_011516879.1:c.1440G>C (CYP11B2) | XP_011515181.1:p.Glu480Asp | |
| XM_011516970.1:c.215-1406C>G (GML) | XP_011515272.1:n.215-1406C>G |