Revel Score:
ENST00000323110 (MANE Select)
0.597
ClinVar RCV:
ClinVar Variation:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.142915047T>A , CM000670.2:g.142915047T>A | GRCh38 |
| NC_000008.10:g.143996463T>A , CM000670.1:g.143996463T>A | GRCh37 |
| NC_000008.9:g.143993465T>A | NCBI36 |
| NG_008374.1:g.7797A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000323110.2:c.594A>T (CYP11B2) MANE Select | ENSP00000325822.2:p.Glu198Asp | |
| ENST00000522728.5:c.264+1002T>A (GML) | ENSP00000430799.1:n.264+1002T>A | |
| NM_000498.3:c.594A>T (CYP11B2) MANE Select | NP_000489.3:p.Glu198Asp | |
| XM_011516877.1:c.672A>T (CYP11B2) | XP_011515179.1:p.Glu224Asp | |
| XM_011516878.1:c.672A>T (CYP11B2) | XP_011515180.1:p.Glu224Asp | |
| XM_011516879.1:c.594A>T (CYP11B2) | XP_011515181.1:p.Glu198Asp | |
| XM_011516970.1:c.297+1002T>A (GML) | XP_011515272.1:n.297+1002T>A |