Linked Data
dbSNP Id:
rs932335
ExAC:
1:209905734 G / C
gnomAD v2:
1-209905734-G-C
gnomAD v3:
1-209732389-G-C
gnomAD v4:
1-209732389-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.209732389G>C , CM000663.2:g.209732389G>C | GRCh38 |
| NC_000001.10:g.209905734G>C , CM000663.1:g.209905734G>C | GRCh37 |
| NC_000001.9:g.207972357G>C | NCBI36 |
| NG_012081.1:g.51185G>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000367027.5:c.518-47G>C (HSD11B1) MANE Select | ENSP00000355994.3:n.518-47G>C | |
| ENST00000261465.5:c.518-47G>C (HSD11B1) | ENSP00000261465.2:n.518-47G>C | |
| ENST00000367027.4:c.518-47G>C (HSD11B1) | ENSP00000355994.3:n.518-47G>C | |
| ENST00000367028.6:c.518-47G>C (HSD11B1) | ENSP00000355995.1:n.518-47G>C | |
| ENST00000615289.4:c.518-47G>C (HSD11B1) | ENSP00000478430.1:n.518-47G>C | |
| NM_001206741.1:c.518-47G>C (HSD11B1) | NP_001193670.1:n.518-47G>C | |
| NM_005525.3:c.518-47G>C (HSD11B1) | NP_005516.1:n.518-47G>C | |
| NM_181755.2:c.518-47G>C (HSD11B1) | NP_861420.1:n.518-47G>C | |
| XR_922542.1:n.3120-8245C>G (HSD11B1-AS1) | ||
| XR_922543.1:n.3111-8245C>G (HSD11B1-AS1) | ||
| XR_922547.1:n.3090+10108C>G (HSD11B1-AS1) | ||
| XR_922549.1:n.124+25087C>G (HSD11B1-AS1) | ||
| NR_134510.1:n.66+10108C>G (HSD11B1-AS1) | ||
| NM_005525.4:c.518-47G>C (HSD11B1) MANE Select | NP_005516.1:n.518-47G>C | |
| NM_001206741.2:c.518-47G>C (HSD11B1) | NP_001193670.1:n.518-47G>C | |
| NM_181755.3:c.518-47G>C (HSD11B1) | NP_861420.1:n.518-47G>C |