Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.142912850A= , CM000670.2:g.142912850A= | GRCh38 |
| NC_000008.10:g.143994266A= , CM000670.1:g.143994266A= | GRCh37 |
| NC_000008.9:g.143991268A= | NCBI36 |
| NG_008374.1:g.9994T= |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000498.3:c.1157T= (CYP11B2) MANE Select | NP_000489.3:p.Val386= |
| ENST00000323110.2:c.1157T= (CYP11B2) MANE Select | ENSP00000325822.2:p.Val386= |
| ENST00000522728.5:c.182-1113A= (GML) | ENSP00000430799.1:n.182-1113A= |
| XM_011516877.1:c.1304T= (CYP11B2) | XP_011515179.1:p.Val435= |
| XM_011516878.1:c.1235T= (CYP11B2) | XP_011515180.1:p.Val412= |
| XM_011516879.1:c.1226T= (CYP11B2) | XP_011515181.1:p.Val409= |
| XM_011516970.1:c.215-1113A= (GML) | XP_011515272.1:n.215-1113A= |