Linked Data
ClinVar Variation Id:
2674660
ClinVar RCV Id:
RCV003459904
dbSNP Id:
rs764534524
ExAC:
8:143957230 A / C
gnomAD v2:
8-143957230-A-C
gnomAD v3:
8-142875814-A-C
gnomAD v4:
8-142875814-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.142875814A>C , CM000670.2:g.142875814A>C | GRCh38 |
| NC_000008.10:g.143957230A>C , CM000670.1:g.143957230A>C | GRCh37 |
| NC_000008.9:g.143954232A>C | NCBI36 |
| NG_007954.1:g.9007T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000292427.10:c.1019T>G (CYP11B1) MANE Select | ENSP00000292427.5:p.Leu340Arg | |
| ENST00000292427.8:c.1019T>G (CYP11B1) | ENSP00000292427.4:p.Leu340Arg | |
| ENST00000314111.4:n.1414T>G (CYP11B1) | ||
| ENST00000377675.3:c.1232T>G (CYP11B1) | ENSP00000366903.3:p.Leu411Arg | |
| ENST00000517471.5:c.1019T>G (CYP11B1) | ENSP00000428043.1:p.Leu340Arg | |
| ENST00000522728.5:c.181+34589A>C (GML) | ENSP00000430799.1:n.181+34589A>C | |
| NM_000497.3:c.1019T>G (CYP11B1) | NP_000488.3:p.Leu340Arg | |
| NM_001026213.1:c.1019T>G (CYP11B1) | NP_001021384.1:p.Leu340Arg | |
| XM_011516870.1:c.1097T>G (CYP11B1) | XP_011515172.1:p.Leu366Arg | |
| XM_011516871.1:c.1097T>G (CYP11B1) | XP_011515173.1:p.Leu366Arg | |
| XM_011516872.1:c.1019T>G (CYP11B1) | XP_011515174.1:p.Leu340Arg | |
| XM_011516873.1:c.1097T>G (CYP11B1) | XP_011515175.1:p.Leu366Arg | |
| XM_011516874.1:c.1097T>G (CYP11B1) | XP_011515176.1:p.Leu366Arg | |
| XM_011516875.1:c.836T>G (CYP11B1) | XP_011515177.1:p.Leu279Arg | |
| XM_011516876.1:c.1097T>G (CYP11B1) | XP_011515178.1:p.Leu366Arg | |
| XM_011516970.1:c.214+34589A>C (GML) | XP_011515272.1:n.214+34589A>C | |
| NM_000497.4:c.1019T>G (CYP11B1) MANE Select | NP_000488.3:p.Leu340Arg |