Linked Data
ClinVar Variation Id:
910245
dbSNP Id:
rs762347776
ExAC:
8:143960599 C / T
gnomAD v2:
8-143960599-C-T
gnomAD v3:
8-142879183-C-T
gnomAD v4:
8-142879183-C-T
COSMIC:
COSM3645963
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.142879183C>T , CM000670.2:g.142879183C>T | GRCh38 |
| NC_000008.10:g.143960599C>T , CM000670.1:g.143960599C>T | GRCh37 |
| NC_000008.9:g.143957601C>T | NCBI36 |
| NG_007954.1:g.5638G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000292427.10:c.244G>A (CYP11B1) MANE Select | ENSP00000292427.5:p.Asp82Asn | |
| ENST00000292427.8:c.244G>A (CYP11B1) | ENSP00000292427.4:p.Asp82Asn | |
| ENST00000314111.4:n.277G>A (CYP11B1) | ||
| ENST00000377675.3:c.379G>A (CYP11B1) | ENSP00000366903.3:p.Asp127Asn | |
| ENST00000517471.5:c.244G>A (CYP11B1) | ENSP00000428043.1:p.Asp82Asn | |
| ENST00000522728.5:c.182-34780C>T (GML) | ENSP00000430799.1:n.182-34780C>T | |
| NM_000497.3:c.244G>A (CYP11B1) | NP_000488.3:p.Asp82Asn | |
| NM_001026213.1:c.244G>A (CYP11B1) | NP_001021384.1:p.Asp82Asn | |
| XM_011516870.1:c.244G>A (CYP11B1) | XP_011515172.1:p.Asp82Asn | |
| XM_011516871.1:c.244G>A (CYP11B1) | XP_011515173.1:p.Asp82Asn | |
| XM_011516872.1:c.244G>A (CYP11B1) | XP_011515174.1:p.Asp82Asn | |
| XM_011516873.1:c.244G>A (CYP11B1) | XP_011515175.1:p.Asp82Asn | |
| XM_011516874.1:c.244G>A (CYP11B1) | XP_011515176.1:p.Asp82Asn | |
| XM_011516875.1:c.-18G>A (CYP11B1) | XP_011515177.1:n.-18G>A | |
| XM_011516876.1:c.244G>A (CYP11B1) | XP_011515178.1:p.Asp82Asn | |
| XM_011516970.1:c.215-34780C>T (GML) | XP_011515272.1:n.215-34780C>T | |
| NM_000497.4:c.244G>A (CYP11B1) MANE Select | NP_000488.3:p.Asp82Asn |