Linked Data
ClinVar Variation Id:
362127
dbSNP Id:
rs5304
gnomAD v2:
8-143955051-C-T
gnomAD v3:
8-142873635-C-T
gnomAD v4:
8-142873635-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.142873635C>T , CM000670.2:g.142873635C>T | GRCh38 |
| NC_000008.10:g.143955051C>T , CM000670.1:g.143955051C>T | GRCh37 |
| NC_000008.9:g.143952053C>T | NCBI36 |
| NG_007954.1:g.11186G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000292427.10:c.*738G>A (CYP11B1) MANE Select | ENSP00000292427.5:n.*738G>A | |
| ENST00000292427.8:c.*738G>A (CYP11B1) | ENSP00000292427.4:n.*738G>A | |
| ENST00000314111.4:n.2447G>A (CYP11B1) | ||
| ENST00000519285.5:c.1284G>A (CYP11B1) | ENSP00000430144.1:n.1284G>A | |
| ENST00000522728.5:c.181+32410C>T (GML) | ENSP00000430799.1:n.181+32410C>T | |
| NM_000497.3:c.*738G>A (CYP11B1) | NP_000488.3:n.*738G>A | |
| NM_001026213.1:c.*738G>A (CYP11B1) | NP_001021384.1:n.*738G>A | |
| XM_011516870.1:c.*640G>A (CYP11B1) | XP_011515172.1:n.*640G>A | |
| XM_011516871.1:c.*640G>A (CYP11B1) | XP_011515173.1:n.*640G>A | |
| XM_011516872.1:c.*640G>A (CYP11B1) | XP_011515174.1:n.*640G>A | |
| XM_011516873.1:c.*738G>A (CYP11B1) | XP_011515175.1:n.*738G>A | |
| XM_011516874.1:c.*738G>A (CYP11B1) | XP_011515176.1:n.*738G>A | |
| XM_011516875.1:c.*640G>A (CYP11B1) | XP_011515177.1:n.*640G>A | |
| XM_011516876.1:c.*738G>A (CYP11B1) | XP_011515178.1:n.*738G>A | |
| XM_011516970.1:c.214+32410C>T (GML) | XP_011515272.1:n.214+32410C>T | |
| NM_000497.4:c.*738G>A (CYP11B1) MANE Select | NP_000488.3:n.*738G>A |