Linked Data
ClinVar Variation Id:
2013800
ClinVar RCV Id:
RCV002829681
dbSNP Id:
rs764996968
ExAC:
8:143956727 G / C
gnomAD v2:
8-143956727-G-C
gnomAD v4:
8-142875311-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.142875311G>C , CM000670.2:g.142875311G>C | GRCh38 |
| NC_000008.10:g.143956727G>C , CM000670.1:g.143956727G>C | GRCh37 |
| NC_000008.9:g.143953729G>C | NCBI36 |
| NG_007954.1:g.9510C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000292427.10:c.1123C>G (CYP11B1) MANE Select | ENSP00000292427.5:p.Leu375Val | |
| ENST00000292427.8:c.1123C>G (CYP11B1) | ENSP00000292427.4:p.Leu375Val | |
| ENST00000314111.4:n.1518C>G (CYP11B1) | ||
| ENST00000377675.3:c.1336C>G (CYP11B1) | ENSP00000366903.3:p.Leu446Val | |
| ENST00000517471.5:c.1123C>G (CYP11B1) | ENSP00000428043.1:p.Leu375Val | |
| ENST00000519285.5:c.157C>G (CYP11B1) | ENSP00000430144.1:p.Leu53Val | |
| ENST00000522728.5:c.181+34086G>C (GML) | ENSP00000430799.1:n.181+34086G>C | |
| NM_000497.3:c.1123C>G (CYP11B1) | NP_000488.3:p.Leu375Val | |
| NM_001026213.1:c.1123C>G (CYP11B1) | NP_001021384.1:p.Leu375Val | |
| XM_011516870.1:c.1270C>G (CYP11B1) | XP_011515172.1:p.Leu424Val | |
| XM_011516871.1:c.1201C>G (CYP11B1) | XP_011515173.1:p.Leu401Val | |
| XM_011516872.1:c.1192C>G (CYP11B1) | XP_011515174.1:p.Leu398Val | |
| XM_011516873.1:c.1270C>G (CYP11B1) | XP_011515175.1:p.Leu424Val | |
| XM_011516874.1:c.1201C>G (CYP11B1) | XP_011515176.1:p.Leu401Val | |
| XM_011516875.1:c.1009C>G (CYP11B1) | XP_011515177.1:p.Leu337Val | |
| XM_011516876.1:c.1270C>G (CYP11B1) | XP_011515178.1:p.Leu424Val | |
| XM_011516970.1:c.214+34086G>C (GML) | XP_011515272.1:n.214+34086G>C | |
| NM_000497.4:c.1123C>G (CYP11B1) MANE Select | NP_000488.3:p.Leu375Val |