Linked Data
ClinVar Variation Id:
362154
dbSNP Id:
rs151335623
ExAC:
8:143957235 C / T
gnomAD v2:
8-143957235-C-T
gnomAD v3:
8-142875819-C-T
gnomAD v4:
8-142875819-C-T
COSMIC:
COSM243934
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.142875819C>T , CM000670.2:g.142875819C>T | GRCh38 |
| NC_000008.10:g.143957235C>T , CM000670.1:g.143957235C>T | GRCh37 |
| NC_000008.9:g.143954237C>T | NCBI36 |
| NG_007954.1:g.9002G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000292427.10:c.1014G>A (CYP11B1) MANE Select | ENSP00000292427.5:p.Gln338= | |
| ENST00000292427.8:c.1014G>A (CYP11B1) | ENSP00000292427.4:p.Gln338= | |
| ENST00000314111.4:n.1409G>A (CYP11B1) | ||
| ENST00000377675.3:c.1227G>A (CYP11B1) | ENSP00000366903.3:p.Gln409= | |
| ENST00000517471.5:c.1014G>A (CYP11B1) | ENSP00000428043.1:p.Gln338= | |
| ENST00000522728.5:c.181+34594C>T (GML) | ENSP00000430799.1:n.181+34594C>T | |
| NM_000497.3:c.1014G>A (CYP11B1) | NP_000488.3:p.Gln338= | |
| NM_001026213.1:c.1014G>A (CYP11B1) | NP_001021384.1:p.Gln338= | |
| XM_011516870.1:c.1092G>A (CYP11B1) | XP_011515172.1:p.Gln364= | |
| XM_011516871.1:c.1092G>A (CYP11B1) | XP_011515173.1:p.Gln364= | |
| XM_011516872.1:c.1014G>A (CYP11B1) | XP_011515174.1:p.Gln338= | |
| XM_011516873.1:c.1092G>A (CYP11B1) | XP_011515175.1:p.Gln364= | |
| XM_011516874.1:c.1092G>A (CYP11B1) | XP_011515176.1:p.Gln364= | |
| XM_011516875.1:c.831G>A (CYP11B1) | XP_011515177.1:p.Gln277= | |
| XM_011516876.1:c.1092G>A (CYP11B1) | XP_011515178.1:p.Gln364= | |
| XM_011516970.1:c.214+34594C>T (GML) | XP_011515272.1:n.214+34594C>T | |
| NM_000497.4:c.1014G>A (CYP11B1) MANE Select | NP_000488.3:p.Gln338= |