HGVS | Genome Assembly |
---|---|
NC_000008.11:g.142912558T>G , CM000670.2:g.142912558T>G | GRCh38 |
NC_000008.10:g.143993974T>G , CM000670.1:g.143993974T>G | GRCh37 |
NC_000008.9:g.143990976T>G | NCBI36 |
NG_008374.1:g.10286A>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000323110.2:c.1370A>C (CYP11B2) MANE Select | ENSP00000325822.2:p.Glu457Ala | |
ENST00000522728.5:c.182-1405T>G (GML) | ENSP00000430799.1:n.182-1405T>G | |
NM_000498.3:c.1370A>C (CYP11B2) MANE Select | NP_000489.3:p.Glu457Ala | |
XM_011516877.1:c.1517A>C (CYP11B2) | XP_011515179.1:p.Glu506Ala | |
XM_011516878.1:c.1448A>C (CYP11B2) | XP_011515180.1:p.Glu483Ala | |
XM_011516879.1:c.1439A>C (CYP11B2) | XP_011515181.1:p.Glu480Ala | |
XM_011516970.1:c.215-1405T>G (GML) | XP_011515272.1:n.215-1405T>G |