Linked Data
ClinVar Variation Id:
1185
dbSNP Id:
rs267606755
gnomAD v2:
8-143956502-A-C
gnomAD v3:
8-142875086-A-C
gnomAD v4:
8-142875086-A-C
PubMed:
PMID:9302260
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.142875086A>C , CM000670.2:g.142875086A>C | GRCh38 |
| NC_000008.10:g.143956502A>C , CM000670.1:g.143956502A>C | GRCh37 |
| NC_000008.9:g.143953504A>C | NCBI36 |
| NG_007954.1:g.9735T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000292427.10:c.1269T>G (CYP11B1) MANE Select | ENSP00000292427.5:p.Tyr423Ter | |
| ENST00000292427.8:c.1269T>G (CYP11B1) | ENSP00000292427.4:p.Tyr423Ter | |
| ENST00000314111.4:n.1595+148T>G (CYP11B1) | ||
| ENST00000377675.3:c.1482T>G (CYP11B1) | ENSP00000366903.3:p.Tyr494Ter | |
| ENST00000517471.5:c.1200+148T>G (CYP11B1) | ENSP00000428043.1:n.1200+148T>G | |
| ENST00000519285.5:c.303T>G (CYP11B1) | ENSP00000430144.1:p.Tyr101Ter | |
| ENST00000522728.5:c.181+33861A>C (GML) | ENSP00000430799.1:n.181+33861A>C | |
| NM_000497.3:c.1269T>G (CYP11B1) | NP_000488.3:p.Tyr423Ter | |
| NM_001026213.1:c.1200+148T>G (CYP11B1) | NP_001021384.1:n.1200+148T>G | |
| XM_011516870.1:c.1416T>G (CYP11B1) | XP_011515172.1:p.Tyr472Ter | |
| XM_011516871.1:c.1347T>G (CYP11B1) | XP_011515173.1:p.Tyr449Ter | |
| XM_011516872.1:c.1338T>G (CYP11B1) | XP_011515174.1:p.Tyr446Ter | |
| XM_011516873.1:c.1416T>G (CYP11B1) | XP_011515175.1:p.Tyr472Ter | |
| XM_011516874.1:c.1347T>G (CYP11B1) | XP_011515176.1:p.Tyr449Ter | |
| XM_011516875.1:c.1155T>G (CYP11B1) | XP_011515177.1:p.Tyr385Ter | |
| XM_011516876.1:c.1347+148T>G (CYP11B1) | XP_011515178.1:n.1347+148T>G | |
| XM_011516970.1:c.214+33861A>C (GML) | XP_011515272.1:n.214+33861A>C | |
| NM_000497.4:c.1269T>G (CYP11B1) MANE Select | NP_000488.3:p.Tyr423Ter |