Linked Data
ClinVar Variation Id:
1928586
ClinVar RCV Id:
RCV002635044
dbSNP Id:
rs104894062
gnomAD v2:
8-143957128-C-G
gnomAD v4:
8-142875712-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.142875712C>G , CM000670.2:g.142875712C>G | GRCh38 |
| NC_000008.10:g.143957128C>G , CM000670.1:g.143957128C>G | GRCh37 |
| NC_000008.9:g.143954130C>G | NCBI36 |
| NG_007954.1:g.9109G>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000292427.10:c.1121G>C (CYP11B1) MANE Select | ENSP00000292427.5:p.Arg374Pro | |
| ENST00000292427.8:c.1121G>C (CYP11B1) | ENSP00000292427.4:p.Arg374Pro | |
| ENST00000314111.4:n.1516G>C (CYP11B1) | ||
| ENST00000377675.3:c.1334G>C (CYP11B1) | ENSP00000366903.3:p.Arg445Pro | |
| ENST00000517471.5:c.1121G>C (CYP11B1) | ENSP00000428043.1:p.Arg374Pro | |
| ENST00000519285.5:c.86G>C (CYP11B1) | ENSP00000430144.1:p.Arg29Pro | |
| ENST00000522728.5:c.181+34487C>G (GML) | ENSP00000430799.1:n.181+34487C>G | |
| NM_000497.3:c.1121G>C (CYP11B1) | NP_000488.3:p.Arg374Pro | |
| NM_001026213.1:c.1121G>C (CYP11B1) | NP_001021384.1:p.Arg374Pro | |
| XM_011516870.1:c.1199G>C (CYP11B1) | XP_011515172.1:p.Arg400Pro | |
| XM_011516871.1:c.1199G>C (CYP11B1) | XP_011515173.1:p.Arg400Pro | |
| XM_011516872.1:c.1121G>C (CYP11B1) | XP_011515174.1:p.Arg374Pro | |
| XM_011516873.1:c.1199G>C (CYP11B1) | XP_011515175.1:p.Arg400Pro | |
| XM_011516874.1:c.1199G>C (CYP11B1) | XP_011515176.1:p.Arg400Pro | |
| XM_011516875.1:c.938G>C (CYP11B1) | XP_011515177.1:p.Arg313Pro | |
| XM_011516876.1:c.1199G>C (CYP11B1) | XP_011515178.1:p.Arg400Pro | |
| XM_011516970.1:c.214+34487C>G (GML) | XP_011515272.1:n.214+34487C>G | |
| NM_000497.4:c.1121G>C (CYP11B1) MANE Select | NP_000488.3:p.Arg374Pro |