Linked Data
ClinVar Variation Id:
31588
ClinVar RCV Id:
RCV000024294
dbSNP Id:
rs387907168
gnomAD v2:
1-209880365-C-T
gnomAD v3:
1-209707020-C-T
gnomAD v4:
1-209707020-C-T
COSMIC:
COSM3864369
PubMed:
PMID:21325058
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.209707020C>T , CM000663.2:g.209707020C>T | GRCh38 |
| NC_000001.10:g.209880365C>T , CM000663.1:g.209880365C>T | GRCh37 |
| NC_000001.9:g.207946988C>T | NCBI36 |
| NG_012081.1:g.25816C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000367027.5:c.409C>T (HSD11B1) MANE Select | ENSP00000355994.3:p.Arg137Cys | |
| ENST00000261465.5:c.409C>T (HSD11B1) | ENSP00000261465.2:p.Arg137Cys | |
| ENST00000367027.4:c.409C>T (HSD11B1) | ENSP00000355994.3:p.Arg137Cys | |
| ENST00000367028.6:c.409C>T (HSD11B1) | ENSP00000355995.1:p.Arg137Cys | |
| ENST00000615289.4:c.409C>T (HSD11B1) | ENSP00000478430.1:p.Arg137Cys | |
| NM_001206741.1:c.409C>T (HSD11B1) | NP_001193670.1:p.Arg137Cys | |
| NM_005525.3:c.409C>T (HSD11B1) | NP_005516.1:p.Arg137Cys | |
| NM_181755.2:c.409C>T (HSD11B1) | NP_861420.1:p.Arg137Cys | |
| XR_922542.1:n.3234+17010G>A (HSD11B1-AS1) | ||
| XR_922543.1:n.3225+17010G>A (HSD11B1-AS1) | ||
| XR_922547.1:n.3090+35477G>A (HSD11B1-AS1) | ||
| XR_922549.1:n.125-43959G>A (HSD11B1-AS1) | ||
| NR_134509.1:n.96+17010G>A (HSD11B1-AS1) | ||
| NR_134510.1:n.66+35477G>A (HSD11B1-AS1) | ||
| NM_005525.4:c.409C>T (HSD11B1) MANE Select | NP_005516.1:p.Arg137Cys | |
| NM_001206741.2:c.409C>T (HSD11B1) | NP_001193670.1:p.Arg137Cys | |
| NM_181755.3:c.409C>T (HSD11B1) | NP_861420.1:p.Arg137Cys |