Linked Data
dbSNP Id:
rs748967395
ExAC:
8:143996127 G / T
gnomAD v2:
8-143996127-G-T
gnomAD v4:
8-142914711-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.142914711G>T , CM000670.2:g.142914711G>T | GRCh38 |
| NC_000008.10:g.143996127G>T , CM000670.1:g.143996127G>T | GRCh37 |
| NC_000008.9:g.143993129G>T | NCBI36 |
| NG_008374.1:g.8133C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000323110.2:c.793C>A (CYP11B2) MANE Select | ENSP00000325822.2:p.Gln265Lys | |
| ENST00000522728.5:c.264+666G>T (GML) | ENSP00000430799.1:n.264+666G>T | |
| NM_000498.3:c.793C>A (CYP11B2) MANE Select | NP_000489.3:p.Gln265Lys | |
| XM_011516877.1:c.871C>A (CYP11B2) | XP_011515179.1:p.Gln291Lys | |
| XM_011516878.1:c.871C>A (CYP11B2) | XP_011515180.1:p.Gln291Lys | |
| XM_011516879.1:c.793C>A (CYP11B2) | XP_011515181.1:p.Gln265Lys | |
| XM_011516970.1:c.297+666G>T (GML) | XP_011515272.1:n.297+666G>T |