Linked Data
ClinVar Variation Id:
706840
dbSNP Id:
rs553707049
ExAC:
8:143960442 G / A
gnomAD v2:
8-143960442-G-A
gnomAD v3:
8-142879026-G-A
gnomAD v4:
8-142879026-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.142879026G>A , CM000670.2:g.142879026G>A | GRCh38 |
| NC_000008.10:g.143960442G>A , CM000670.1:g.143960442G>A | GRCh37 |
| NC_000008.9:g.143957444G>A | NCBI36 |
| NG_007954.1:g.5795C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000292427.10:c.395+6C>T (CYP11B1) MANE Select | ENSP00000292427.5:n.395+6C>T | |
| ENST00000292427.8:c.395+6C>T (CYP11B1) | ENSP00000292427.4:n.395+6C>T | |
| ENST00000314111.4:n.428+6C>T (CYP11B1) | ||
| ENST00000377675.3:c.530+6C>T (CYP11B1) | ENSP00000366903.3:n.530+6C>T | |
| ENST00000517471.5:c.395+6C>T (CYP11B1) | ENSP00000428043.1:n.395+6C>T | |
| ENST00000522728.5:c.182-34937G>A (GML) | ENSP00000430799.1:n.182-34937G>A | |
| NM_000497.3:c.395+6C>T (CYP11B1) | NP_000488.3:n.395+6C>T | |
| NM_001026213.1:c.395+6C>T (CYP11B1) | NP_001021384.1:n.395+6C>T | |
| XM_011516870.1:c.395+6C>T (CYP11B1) | XP_011515172.1:n.395+6C>T | |
| XM_011516871.1:c.395+6C>T (CYP11B1) | XP_011515173.1:n.395+6C>T | |
| XM_011516872.1:c.395+6C>T (CYP11B1) | XP_011515174.1:n.395+6C>T | |
| XM_011516873.1:c.395+6C>T (CYP11B1) | XP_011515175.1:n.395+6C>T | |
| XM_011516874.1:c.395+6C>T (CYP11B1) | XP_011515176.1:n.395+6C>T | |
| XM_011516875.1:c.134+6C>T (CYP11B1) | XP_011515177.1:n.134+6C>T | |
| XM_011516876.1:c.395+6C>T (CYP11B1) | XP_011515178.1:n.395+6C>T | |
| XM_011516970.1:c.215-34937G>A (GML) | XP_011515272.1:n.215-34937G>A | |
| NM_000497.4:c.395+6C>T (CYP11B1) MANE Select | NP_000488.3:n.395+6C>T |