HGVS | Genome Assembly |
---|---|
NC_000008.11:g.142912551C>T , CM000670.2:g.142912551C>T | GRCh38 |
NC_000008.10:g.143993967C>T , CM000670.1:g.143993967C>T | GRCh37 |
NC_000008.9:g.143990969C>T | NCBI36 |
NG_008374.1:g.10293G>A |
HGVS | Amino-acid change | |
---|---|---|
ENST00000323110.2:c.1377G>A (CYP11B2) MANE Select | ENSP00000325822.2:p.Glu459= | |
ENST00000522728.5:c.182-1412C>T (GML) | ENSP00000430799.1:n.182-1412C>T | |
NM_000498.3:c.1377G>A (CYP11B2) MANE Select | NP_000489.3:p.Glu459= | |
XM_011516877.1:c.1524G>A (CYP11B2) | XP_011515179.1:p.Glu508= | |
XM_011516878.1:c.1455G>A (CYP11B2) | XP_011515180.1:p.Glu485= | |
XM_011516879.1:c.1446G>A (CYP11B2) | XP_011515181.1:p.Glu482= | |
XM_011516970.1:c.215-1412C>T (GML) | XP_011515272.1:n.215-1412C>T |