Revel Score:
ENST00000323110 (MANE Select)
0.347
gnomAD v2:
gnomAD v3:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.142912850A>C , CM000670.2:g.142912850A>C | GRCh38 |
| NC_000008.10:g.143994266A>C , CM000670.1:g.143994266A>C | GRCh37 |
| NC_000008.9:g.143991268A>C | NCBI36 |
| NG_008374.1:g.9994T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000323110.2:c.1157T>G (CYP11B2) MANE Select | ENSP00000325822.2:p.Val386Gly | |
| ENST00000522728.5:c.182-1113A>C (GML) | ENSP00000430799.1:n.182-1113A>C | |
| NM_000498.3:c.1157T>G (CYP11B2) MANE Select | NP_000489.3:p.Val386Gly | |
| XM_011516877.1:c.1304T>G (CYP11B2) | XP_011515179.1:p.Val435Gly | |
| XM_011516878.1:c.1235T>G (CYP11B2) | XP_011515180.1:p.Val412Gly | |
| XM_011516879.1:c.1226T>G (CYP11B2) | XP_011515181.1:p.Val409Gly | |
| XM_011516970.1:c.215-1113A>C (GML) | XP_011515272.1:n.215-1113A>C |