Linked Data
ClinVar Variation Id:
16879
ClinVar RCV Id:
RCV000018375
dbSNP Id:
rs72554627
ExAC:
8:143993962 A / G
gnomAD v2:
8-143993962-A-G
gnomAD v4:
8-142912546-A-G
PubMed:
PMID:9177280
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.142912546A>G , CM000670.2:g.142912546A>G | GRCh38 |
| NC_000008.10:g.143993962A>G , CM000670.1:g.143993962A>G | GRCh37 |
| NC_000008.9:g.143990964A>G | NCBI36 |
| NG_008374.1:g.10298T>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000323110.2:c.1382T>C (CYP11B2) MANE Select | ENSP00000325822.2:p.Leu461Pro | |
| ENST00000522728.5:c.182-1417A>G (GML) | ENSP00000430799.1:n.182-1417A>G | |
| NM_000498.3:c.1382T>C (CYP11B2) MANE Select | NP_000489.3:p.Leu461Pro | |
| XM_011516877.1:c.1529T>C (CYP11B2) | XP_011515179.1:p.Leu510Pro | |
| XM_011516878.1:c.1460T>C (CYP11B2) | XP_011515180.1:p.Leu487Pro | |
| XM_011516879.1:c.1451T>C (CYP11B2) | XP_011515181.1:p.Leu484Pro | |
| XM_011516970.1:c.215-1417A>G (GML) | XP_011515272.1:n.215-1417A>G |