gnomAD v3:
gnomAD v4:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.209687323T>A , CM000663.2:g.209687323T>A | GRCh38 |
| NC_000001.10:g.209860668T>A , CM000663.1:g.209860668T>A | GRCh37 |
| NC_000001.9:g.207927291T>A | NCBI36 |
| NG_012081.1:g.6119T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000261465.5:c.-49+1038T>A (HSD11B1) | ENSP00000261465.2:n.-49+1038T>A | |
| ENST00000367028.6:c.-49+1038T>A (HSD11B1) | ENSP00000355995.1:n.-49+1038T>A | |
| ENST00000615289.4:c.-27+1038T>A (HSD11B1) | ENSP00000478430.1:n.-27+1038T>A | |
| NM_001206741.1:c.-49+1038T>A (HSD11B1) | NP_001193670.1:n.-49+1038T>A | |
| NM_181755.2:c.-27+1038T>A (HSD11B1) | NP_861420.1:n.-27+1038T>A | |
| XR_922538.1:n.1689A>T | ||
| XR_922539.1:n.1689A>T | ||
| XR_922540.1:n.55A>T | ||
| XR_922542.1:n.3235-10790A>T (HSD11B1-AS1) | ||
| XR_922543.1:n.3226-24262A>T (HSD11B1-AS1) | ||
| XR_922547.1:n.3091-24262A>T (HSD11B1-AS1) | ||
| XR_922549.1:n.125-24262A>T (HSD11B1-AS1) | ||
| NR_134509.1:n.97-24262A>T (HSD11B1-AS1) | ||
| NR_134510.1:n.67-24262A>T (HSD11B1-AS1) | ||
| NM_001206741.2:c.-49+1038T>A (HSD11B1) | NP_001193670.1:n.-49+1038T>A | |
| NM_181755.3:c.-27+1038T>A (HSD11B1) | NP_861420.1:n.-27+1038T>A |