Linked Data
dbSNP Id:
rs1816867832
gnomAD v3:
8-142874414-G-C
gnomAD v4:
8-142874414-G-C
COSMIC:
COSM1674222
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.142874414G>C , CM000670.2:g.142874414G>C | GRCh38 |
| NC_000008.10:g.143955830G>C , CM000670.1:g.143955830G>C | GRCh37 |
| NC_000008.9:g.143952832G>C | NCBI36 |
| NG_007954.1:g.10407C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000292427.10:c.1471C>G (CYP11B1) MANE Select | ENSP00000292427.5:p.Pro491Ala | |
| ENST00000292427.8:c.1471C>G (CYP11B1) | ENSP00000292427.4:p.Pro491Ala | |
| ENST00000314111.4:n.1668C>G (CYP11B1) | ||
| ENST00000377675.3:c.1684C>G (CYP11B1) | ENSP00000366903.3:p.Pro562Ala | |
| ENST00000517471.5:c.1273C>G (CYP11B1) | ENSP00000428043.1:p.Pro425Ala | |
| ENST00000519285.5:c.505C>G (CYP11B1) | ENSP00000430144.1:p.Pro169Ala | |
| ENST00000522728.5:c.181+33189G>C (GML) | ENSP00000430799.1:n.181+33189G>C | |
| NM_000497.3:c.1471C>G (CYP11B1) | NP_000488.3:p.Pro491Ala | |
| NM_001026213.1:c.1273C>G (CYP11B1) | NP_001021384.1:p.Pro425Ala | |
| XM_011516870.1:c.1709C>G (CYP11B1) | XP_011515172.1:p.Ala570Gly | |
| XM_011516871.1:c.1640C>G (CYP11B1) | XP_011515173.1:p.Ala547Gly | |
| XM_011516872.1:c.1631C>G (CYP11B1) | XP_011515174.1:p.Ala544Gly | |
| XM_011516873.1:c.1618C>G (CYP11B1) | XP_011515175.1:p.Pro540Ala | |
| XM_011516874.1:c.1549C>G (CYP11B1) | XP_011515176.1:p.Pro517Ala | |
| XM_011516875.1:c.1448C>G (CYP11B1) | XP_011515177.1:p.Ala483Gly | |
| XM_011516876.1:c.1420C>G (CYP11B1) | XP_011515178.1:p.Pro474Ala | |
| XM_011516970.1:c.214+33189G>C (GML) | XP_011515272.1:n.214+33189G>C | |
| NM_000497.4:c.1471C>G (CYP11B1) MANE Select | NP_000488.3:p.Pro491Ala |