Linked Data
dbSNP Id:
rs759437467
ExAC:
8:143957276 T / A
gnomAD v2:
8-143957276-T-A
gnomAD v4:
8-142875860-T-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.142875860T>A , CM000670.2:g.142875860T>A | GRCh38 |
| NC_000008.10:g.143957276T>A , CM000670.1:g.143957276T>A | GRCh37 |
| NC_000008.9:g.143954278T>A | NCBI36 |
| NG_007954.1:g.8961A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000292427.10:c.973A>T (CYP11B1) MANE Select | ENSP00000292427.5:p.Met325Leu | |
| ENST00000292427.8:c.973A>T (CYP11B1) | ENSP00000292427.4:p.Met325Leu | |
| ENST00000314111.4:n.1368A>T (CYP11B1) | ||
| ENST00000377675.3:c.1186A>T (CYP11B1) | ENSP00000366903.3:p.Met396Leu | |
| ENST00000517471.5:c.973A>T (CYP11B1) | ENSP00000428043.1:p.Met325Leu | |
| ENST00000522728.5:c.181+34635T>A (GML) | ENSP00000430799.1:n.181+34635T>A | |
| NM_000497.3:c.973A>T (CYP11B1) | NP_000488.3:p.Met325Leu | |
| NM_001026213.1:c.973A>T (CYP11B1) | NP_001021384.1:p.Met325Leu | |
| XM_011516870.1:c.1051A>T (CYP11B1) | XP_011515172.1:p.Met351Leu | |
| XM_011516871.1:c.1051A>T (CYP11B1) | XP_011515173.1:p.Met351Leu | |
| XM_011516872.1:c.973A>T (CYP11B1) | XP_011515174.1:p.Met325Leu | |
| XM_011516873.1:c.1051A>T (CYP11B1) | XP_011515175.1:p.Met351Leu | |
| XM_011516874.1:c.1051A>T (CYP11B1) | XP_011515176.1:p.Met351Leu | |
| XM_011516875.1:c.790A>T (CYP11B1) | XP_011515177.1:p.Met264Leu | |
| XM_011516876.1:c.1051A>T (CYP11B1) | XP_011515178.1:p.Met351Leu | |
| XM_011516970.1:c.214+34635T>A (GML) | XP_011515272.1:n.214+34635T>A | |
| NM_000497.4:c.973A>T (CYP11B1) MANE Select | NP_000488.3:p.Met325Leu |