Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.142915123T= , CM000670.2:g.142915123T= | GRCh38 |
| NC_000008.10:g.143996539T= , CM000670.1:g.143996539T= | GRCh37 |
| NC_000008.9:g.143993541T= | NCBI36 |
| NG_008374.1:g.7721A= |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000498.3:c.518A= (CYP11B2) MANE Select | NP_000489.3:p.Lys173= |
| ENST00000323110.2:c.518A= (CYP11B2) MANE Select | ENSP00000325822.2:p.Lys173= |
| ENST00000522728.5:c.264+1078T= (GML) | ENSP00000430799.1:n.264+1078T= |
| XM_011516877.1:c.596A= (CYP11B2) | XP_011515179.1:p.Lys199= |
| XM_011516878.1:c.596A= (CYP11B2) | XP_011515180.1:p.Lys199= |
| XM_011516879.1:c.518A= (CYP11B2) | XP_011515181.1:p.Lys173= |
| XM_011516970.1:c.297+1078T= (GML) | XP_011515272.1:n.297+1078T= |