Linked Data
ClinVar Variation Id:
552238
dbSNP Id:
rs764598023
ExAC:
8:143956699 C / T
gnomAD v2:
8-143956699-C-T
gnomAD v4:
8-142875283-C-T
COSMIC:
COSM5874020
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.142875283C>T , CM000670.2:g.142875283C>T | GRCh38 |
| NC_000008.10:g.143956699C>T , CM000670.1:g.143956699C>T | GRCh37 |
| NC_000008.9:g.143953701C>T | NCBI36 |
| NG_007954.1:g.9538G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000292427.10:c.1151G>A (CYP11B1) MANE Select | ENSP00000292427.5:p.Arg384Gln | |
| ENST00000292427.8:c.1151G>A (CYP11B1) | ENSP00000292427.4:p.Arg384Gln | |
| ENST00000314111.4:n.1546G>A (CYP11B1) | ||
| ENST00000377675.3:c.1364G>A (CYP11B1) | ENSP00000366903.3:p.Arg455Gln | |
| ENST00000517471.5:c.1151G>A (CYP11B1) | ENSP00000428043.1:p.Arg384Gln | |
| ENST00000519285.5:c.185G>A (CYP11B1) | ENSP00000430144.1:p.Arg62Gln | |
| ENST00000522728.5:c.181+34058C>T (GML) | ENSP00000430799.1:n.181+34058C>T | |
| NM_000497.3:c.1151G>A (CYP11B1) | NP_000488.3:p.Arg384Gln | |
| NM_001026213.1:c.1151G>A (CYP11B1) | NP_001021384.1:p.Arg384Gln | |
| XM_011516870.1:c.1298G>A (CYP11B1) | XP_011515172.1:p.Arg433Gln | |
| XM_011516871.1:c.1229G>A (CYP11B1) | XP_011515173.1:p.Arg410Gln | |
| XM_011516872.1:c.1220G>A (CYP11B1) | XP_011515174.1:p.Arg407Gln | |
| XM_011516873.1:c.1298G>A (CYP11B1) | XP_011515175.1:p.Arg433Gln | |
| XM_011516874.1:c.1229G>A (CYP11B1) | XP_011515176.1:p.Arg410Gln | |
| XM_011516875.1:c.1037G>A (CYP11B1) | XP_011515177.1:p.Arg346Gln | |
| XM_011516876.1:c.1298G>A (CYP11B1) | XP_011515178.1:p.Arg433Gln | |
| XM_011516970.1:c.214+34058C>T (GML) | XP_011515272.1:n.214+34058C>T | |
| NM_000497.4:c.1151G>A (CYP11B1) MANE Select | NP_000488.3:p.Arg384Gln |