Linked Data
dbSNP Id:
rs773783460
ExAC:
8:143996155 C / G
gnomAD v2:
8-143996155-C-G
gnomAD v4:
8-142914739-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.142914739C>G , CM000670.2:g.142914739C>G | GRCh38 |
| NC_000008.10:g.143996155C>G , CM000670.1:g.143996155C>G | GRCh37 |
| NC_000008.9:g.143993157C>G | NCBI36 |
| NG_008374.1:g.8105G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000323110.2:c.765G>C (CYP11B2) MANE Select | ENSP00000325822.2:p.Glu255Asp | |
| ENST00000522728.5:c.264+694C>G (GML) | ENSP00000430799.1:n.264+694C>G | |
| NM_000498.3:c.765G>C (CYP11B2) MANE Select | NP_000489.3:p.Glu255Asp | |
| XM_011516877.1:c.843G>C (CYP11B2) | XP_011515179.1:p.Glu281Asp | |
| XM_011516878.1:c.843G>C (CYP11B2) | XP_011515180.1:p.Glu281Asp | |
| XM_011516879.1:c.765G>C (CYP11B2) | XP_011515181.1:p.Glu255Asp | |
| XM_011516970.1:c.297+694C>G (GML) | XP_011515272.1:n.297+694C>G |