Linked Data
ClinVar Variation Id:
362173
dbSNP Id:
rs3802228
gnomAD v2:
8-143992218-A-G
gnomAD v3:
8-142910802-A-G
gnomAD v4:
8-142910802-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.142910802A>G , CM000670.2:g.142910802A>G | GRCh38 |
| NC_000008.10:g.143992218A>G , CM000670.1:g.143992218A>G | GRCh37 |
| NC_000008.9:g.143989220A>G | NCBI36 |
| NG_008374.1:g.12042T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000323110.2:c.*1178T>C (CYP11B2) MANE Select | ENSP00000325822.2:n.*1178T>C | |
| ENST00000522728.5:c.182-3161A>G (GML) | ENSP00000430799.1:n.182-3161A>G | |
| NM_000498.3:c.*1178T>C (CYP11B2) MANE Select | NP_000489.3:n.*1178T>C | |
| XM_011516877.1:c.*1178T>C (CYP11B2) | XP_011515179.1:n.*1178T>C | |
| XM_011516878.1:c.*1178T>C (CYP11B2) | XP_011515180.1:n.*1178T>C | |
| XM_011516879.1:c.*1178T>C (CYP11B2) | XP_011515181.1:n.*1178T>C | |
| XM_011516970.1:c.215-3161A>G (GML) | XP_011515272.1:n.215-3161A>G |