Linked Data
ClinVar Variation Id:
375729
ClinVar RCV Id:
RCV001258229
dbSNP Id:
rs12086634
ExAC:
1:209880259 T / G
gnomAD v2:
1-209880259-T-G
gnomAD v3:
1-209706914-T-G
gnomAD v4:
1-209706914-T-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.209706914T>G , CM000663.2:g.209706914T>G | GRCh38 |
| NC_000001.10:g.209880259T>G , CM000663.1:g.209880259T>G | GRCh37 |
| NC_000001.9:g.207946882T>G | NCBI36 |
| NG_012081.1:g.25710T>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000367027.5:c.332-29T>G (HSD11B1) MANE Select | ENSP00000355994.3:n.332-29T>G | |
| ENST00000261465.5:c.332-29T>G (HSD11B1) | ENSP00000261465.2:n.332-29T>G | |
| ENST00000367027.4:c.332-29T>G (HSD11B1) | ENSP00000355994.3:n.332-29T>G | |
| ENST00000367028.6:c.332-29T>G (HSD11B1) | ENSP00000355995.1:n.332-29T>G | |
| ENST00000615289.4:c.332-29T>G (HSD11B1) | ENSP00000478430.1:n.332-29T>G | |
| NM_001206741.1:c.332-29T>G (HSD11B1) | NP_001193670.1:n.332-29T>G | |
| NM_005525.3:c.332-29T>G (HSD11B1) | NP_005516.1:n.332-29T>G | |
| NM_181755.2:c.332-29T>G (HSD11B1) | NP_861420.1:n.332-29T>G | |
| XR_922542.1:n.3234+17116A>C (HSD11B1-AS1) | ||
| XR_922543.1:n.3225+17116A>C (HSD11B1-AS1) | ||
| XR_922547.1:n.3090+35583A>C (HSD11B1-AS1) | ||
| XR_922549.1:n.125-43853A>C (HSD11B1-AS1) | ||
| NR_134509.1:n.96+17116A>C (HSD11B1-AS1) | ||
| NR_134510.1:n.66+35583A>C (HSD11B1-AS1) | ||
| NM_005525.4:c.332-29T>G (HSD11B1) MANE Select | NP_005516.1:n.332-29T>G | |
| NM_001206741.2:c.332-29T>G (HSD11B1) | NP_001193670.1:n.332-29T>G | |
| NM_181755.3:c.332-29T>G (HSD11B1) | NP_861420.1:n.332-29T>G |