Linked Data
ClinVar Variation Id:
362145
dbSNP Id:
rs374517238
ExAC:
8:143955850 A / T
gnomAD v2:
8-143955850-A-T
gnomAD v3:
8-142874434-A-T
gnomAD v4:
8-142874434-A-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.142874434A>T , CM000670.2:g.142874434A>T | GRCh38 |
| NC_000008.10:g.143955850A>T , CM000670.1:g.143955850A>T | GRCh37 |
| NC_000008.9:g.143952852A>T | NCBI36 |
| NG_007954.1:g.10387T>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000292427.10:c.1451T>A (CYP11B1) MANE Select | ENSP00000292427.5:p.Val484Asp | |
| ENST00000292427.8:c.1451T>A (CYP11B1) | ENSP00000292427.4:p.Val484Asp | |
| ENST00000314111.4:n.1648T>A (CYP11B1) | ||
| ENST00000377675.3:c.1664T>A (CYP11B1) | ENSP00000366903.3:p.Val555Asp | |
| ENST00000517471.5:c.1253T>A (CYP11B1) | ENSP00000428043.1:p.Val418Asp | |
| ENST00000519285.5:c.485T>A (CYP11B1) | ENSP00000430144.1:p.Val162Asp | |
| ENST00000522728.5:c.181+33209A>T (GML) | ENSP00000430799.1:n.181+33209A>T | |
| NM_000497.3:c.1451T>A (CYP11B1) | NP_000488.3:p.Val484Asp | |
| NM_001026213.1:c.1253T>A (CYP11B1) | NP_001021384.1:p.Val418Asp | |
| XM_011516870.1:c.1689T>A (CYP11B1) | XP_011515172.1:p.Gly563= | |
| XM_011516871.1:c.1620T>A (CYP11B1) | XP_011515173.1:p.Gly540= | |
| XM_011516872.1:c.1611T>A (CYP11B1) | XP_011515174.1:p.Gly537= | |
| XM_011516873.1:c.1598T>A (CYP11B1) | XP_011515175.1:p.Val533Asp | |
| XM_011516874.1:c.1529T>A (CYP11B1) | XP_011515176.1:p.Val510Asp | |
| XM_011516875.1:c.1428T>A (CYP11B1) | XP_011515177.1:p.Gly476= | |
| XM_011516876.1:c.1400T>A (CYP11B1) | XP_011515178.1:p.Val467Asp | |
| XM_011516970.1:c.214+33209A>T (GML) | XP_011515272.1:n.214+33209A>T | |
| NM_000497.4:c.1451T>A (CYP11B1) MANE Select | NP_000488.3:p.Val484Asp |