Linked Data
dbSNP Id:
rs779683675
ExAC:
8:143955772 T / C
gnomAD v2:
8-143955772-T-C
gnomAD v4:
8-142874356-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.142874356T>C , CM000670.2:g.142874356T>C | GRCh38 |
| NC_000008.10:g.143955772T>C , CM000670.1:g.143955772T>C | GRCh37 |
| NC_000008.9:g.143952774T>C | NCBI36 |
| NG_007954.1:g.10465A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000292427.10:c.*17A>G (CYP11B1) MANE Select | ENSP00000292427.5:n.*17A>G | |
| ENST00000292427.8:c.*17A>G (CYP11B1) | ENSP00000292427.4:n.*17A>G | |
| ENST00000314111.4:n.1726A>G (CYP11B1) | ||
| ENST00000377675.3:c.*17A>G (CYP11B1) | ENSP00000366903.3:n.*17A>G | |
| ENST00000517471.5:c.*17A>G (CYP11B1) | ENSP00000428043.1:n.*17A>G | |
| ENST00000519285.5:c.563A>G (CYP11B1) | ENSP00000430144.1:n.563A>G | |
| ENST00000522728.5:c.181+33131T>C (GML) | ENSP00000430799.1:n.181+33131T>C | |
| NM_000497.3:c.*17A>G (CYP11B1) | NP_000488.3:n.*17A>G | |
| NM_001026213.1:c.*17A>G (CYP11B1) | NP_001021384.1:n.*17A>G | |
| XM_011516870.1:c.1767A>G (CYP11B1) | XP_011515172.1:p.Pro589= | |
| XM_011516871.1:c.1698A>G (CYP11B1) | XP_011515173.1:p.Pro566= | |
| XM_011516872.1:c.1689A>G (CYP11B1) | XP_011515174.1:p.Pro563= | |
| XM_011516873.1:c.*17A>G (CYP11B1) | XP_011515175.1:n.*17A>G | |
| XM_011516874.1:c.*17A>G (CYP11B1) | XP_011515176.1:n.*17A>G | |
| XM_011516875.1:c.1506A>G (CYP11B1) | XP_011515177.1:p.Pro502= | |
| XM_011516876.1:c.*17A>G (CYP11B1) | XP_011515178.1:n.*17A>G | |
| XM_011516970.1:c.214+33131T>C (GML) | XP_011515272.1:n.214+33131T>C | |
| NM_000497.4:c.*17A>G (CYP11B1) MANE Select | NP_000488.3:n.*17A>G |