Linked Data
ClinVar Variation Id:
1178
dbSNP Id:
rs104894068
ExAC:
8:143957293 G / A
gnomAD v2:
8-143957293-G-A
gnomAD v3:
8-142875877-G-A
gnomAD v4:
8-142875877-G-A
COSMIC:
COSM205557
PubMed:
PMID:9302260
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.142875877G>A , CM000670.2:g.142875877G>A | GRCh38 |
| NC_000008.10:g.143957293G>A , CM000670.1:g.143957293G>A | GRCh37 |
| NC_000008.9:g.143954295G>A | NCBI36 |
| NG_007954.1:g.8944C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000292427.10:c.956C>T (CYP11B1) MANE Select | ENSP00000292427.5:p.Thr319Met | |
| ENST00000292427.8:c.956C>T (CYP11B1) | ENSP00000292427.4:p.Thr319Met | |
| ENST00000314111.4:n.1351C>T (CYP11B1) | ||
| ENST00000377675.3:c.1169C>T (CYP11B1) | ENSP00000366903.3:p.Thr390Met | |
| ENST00000517471.5:c.956C>T (CYP11B1) | ENSP00000428043.1:p.Thr319Met | |
| ENST00000522728.5:c.181+34652G>A (GML) | ENSP00000430799.1:n.181+34652G>A | |
| NM_000497.3:c.956C>T (CYP11B1) | NP_000488.3:p.Thr319Met | |
| NM_001026213.1:c.956C>T (CYP11B1) | NP_001021384.1:p.Thr319Met | |
| XM_011516870.1:c.1034C>T (CYP11B1) | XP_011515172.1:p.Thr345Met | |
| XM_011516871.1:c.1034C>T (CYP11B1) | XP_011515173.1:p.Thr345Met | |
| XM_011516872.1:c.956C>T (CYP11B1) | XP_011515174.1:p.Thr319Met | |
| XM_011516873.1:c.1034C>T (CYP11B1) | XP_011515175.1:p.Thr345Met | |
| XM_011516874.1:c.1034C>T (CYP11B1) | XP_011515176.1:p.Thr345Met | |
| XM_011516875.1:c.773C>T (CYP11B1) | XP_011515177.1:p.Thr258Met | |
| XM_011516876.1:c.1034C>T (CYP11B1) | XP_011515178.1:p.Thr345Met | |
| XM_011516970.1:c.214+34652G>A (GML) | XP_011515272.1:n.214+34652G>A | |
| NM_000497.4:c.956C>T (CYP11B1) MANE Select | NP_000488.3:p.Thr319Met |