Linked Data
dbSNP Id:
rs11119328
gnomAD v2:
1-209885318-C-T
gnomAD v3:
1-209711973-C-T
gnomAD v4:
1-209711973-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.209711973C>T , CM000663.2:g.209711973C>T | GRCh38 |
| NC_000001.10:g.209885318C>T , CM000663.1:g.209885318C>T | GRCh37 |
| NC_000001.9:g.207951941C>T | NCBI36 |
| NG_012081.1:g.30769C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000367027.5:c.517+4845C>T (HSD11B1) MANE Select | ENSP00000355994.3:n.517+4845C>T | |
| ENST00000261465.5:c.517+4845C>T (HSD11B1) | ENSP00000261465.2:n.517+4845C>T | |
| ENST00000367027.4:c.517+4845C>T (HSD11B1) | ENSP00000355994.3:n.517+4845C>T | |
| ENST00000367028.6:c.517+4845C>T (HSD11B1) | ENSP00000355995.1:n.517+4845C>T | |
| ENST00000615289.4:c.517+4845C>T (HSD11B1) | ENSP00000478430.1:n.517+4845C>T | |
| NM_001206741.1:c.517+4845C>T (HSD11B1) | NP_001193670.1:n.517+4845C>T | |
| NM_005525.3:c.517+4845C>T (HSD11B1) | NP_005516.1:n.517+4845C>T | |
| NM_181755.2:c.517+4845C>T (HSD11B1) | NP_861420.1:n.517+4845C>T | |
| XR_922542.1:n.3234+12057G>A (HSD11B1-AS1) | ||
| XR_922543.1:n.3225+12057G>A (HSD11B1-AS1) | ||
| XR_922547.1:n.3090+30524G>A (HSD11B1-AS1) | ||
| XR_922549.1:n.124+45503G>A (HSD11B1-AS1) | ||
| NR_134509.1:n.96+12057G>A (HSD11B1-AS1) | ||
| NR_134510.1:n.66+30524G>A (HSD11B1-AS1) | ||
| NM_005525.4:c.517+4845C>T (HSD11B1) MANE Select | NP_005516.1:n.517+4845C>T | |
| NM_001206741.2:c.517+4845C>T (HSD11B1) | NP_001193670.1:n.517+4845C>T | |
| NM_181755.3:c.517+4845C>T (HSD11B1) | NP_861420.1:n.517+4845C>T |