Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.142912552T= , CM000670.2:g.142912552T= | GRCh38 |
| NC_000008.10:g.143993968T= , CM000670.1:g.143993968T= | GRCh37 |
| NC_000008.9:g.143990970T= | NCBI36 |
| NG_008374.1:g.10292A= |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000323110.2:c.1376A= (CYP11B2) MANE Select | ENSP00000325822.2:p.Glu459= | |
| ENST00000522728.5:c.182-1411T= (GML) | ENSP00000430799.1:n.182-1411T= | |
| NM_000498.3:c.1376A= (CYP11B2) MANE Select | NP_000489.3:p.Glu459= | |
| XM_011516877.1:c.1523A= (CYP11B2) | XP_011515179.1:p.Glu508= | |
| XM_011516878.1:c.1454A= (CYP11B2) | XP_011515180.1:p.Glu485= | |
| XM_011516879.1:c.1445A= (CYP11B2) | XP_011515181.1:p.Glu482= | |
| XM_011516970.1:c.215-1411T= (GML) | XP_011515272.1:n.215-1411T= |