Linked Data
ClinVar Variation Id:
35989
dbSNP Id:
rs193922540
gnomAD v2:
8-143958621-C-T
gnomAD v3:
8-142877205-C-T
gnomAD v4:
8-142877205-C-T
COSMIC:
COSM1202812
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.142877205C>T , CM000670.2:g.142877205C>T | GRCh38 |
| NC_000008.10:g.143958621C>T , CM000670.1:g.143958621C>T | GRCh37 |
| NC_000008.9:g.143955623C>T | NCBI36 |
| NG_007954.1:g.7616G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000292427.10:c.413G>A (CYP11B1) MANE Select | ENSP00000292427.5:p.Arg138His | |
| ENST00000292427.8:c.413G>A (CYP11B1) | ENSP00000292427.4:p.Arg138His | |
| ENST00000314111.4:n.446G>A (CYP11B1) | ||
| ENST00000377675.3:c.626G>A (CYP11B1) | ENSP00000366903.3:p.Arg209His | |
| ENST00000517471.5:c.413G>A (CYP11B1) | ENSP00000428043.1:p.Arg138His | |
| ENST00000522728.5:c.181+35980C>T (GML) | ENSP00000430799.1:n.181+35980C>T | |
| NM_000497.3:c.413G>A (CYP11B1) | NP_000488.3:p.Arg138His | |
| NM_001026213.1:c.413G>A (CYP11B1) | NP_001021384.1:p.Arg138His | |
| XM_011516870.1:c.491G>A (CYP11B1) | XP_011515172.1:p.Arg164His | |
| XM_011516871.1:c.491G>A (CYP11B1) | XP_011515173.1:p.Arg164His | |
| XM_011516872.1:c.413G>A (CYP11B1) | XP_011515174.1:p.Arg138His | |
| XM_011516873.1:c.491G>A (CYP11B1) | XP_011515175.1:p.Arg164His | |
| XM_011516874.1:c.491G>A (CYP11B1) | XP_011515176.1:p.Arg164His | |
| XM_011516875.1:c.230G>A (CYP11B1) | XP_011515177.1:p.Arg77His | |
| XM_011516876.1:c.491G>A (CYP11B1) | XP_011515178.1:p.Arg164His | |
| XM_011516970.1:c.214+35980C>T (GML) | XP_011515272.1:n.214+35980C>T | |
| NM_000497.4:c.413G>A (CYP11B1) MANE Select | NP_000488.3:p.Arg138His |