HGVS | Genome Assembly |
---|---|
NC_000008.11:g.142912553C>T , CM000670.2:g.142912553C>T | GRCh38 |
NC_000008.10:g.143993969C>T , CM000670.1:g.143993969C>T | GRCh37 |
NC_000008.9:g.143990971C>T | NCBI36 |
NG_008374.1:g.10291G>A |
HGVS | Amino-acid change | |
---|---|---|
ENST00000323110.2:c.1375G>A (CYP11B2) MANE Select | ENSP00000325822.2:p.Glu459Lys | |
ENST00000522728.5:c.182-1410C>T (GML) | ENSP00000430799.1:n.182-1410C>T | |
NM_000498.3:c.1375G>A (CYP11B2) MANE Select | NP_000489.3:p.Glu459Lys | |
XM_011516877.1:c.1522G>A (CYP11B2) | XP_011515179.1:p.Glu508Lys | |
XM_011516878.1:c.1453G>A (CYP11B2) | XP_011515180.1:p.Glu485Lys | |
XM_011516879.1:c.1444G>A (CYP11B2) | XP_011515181.1:p.Glu482Lys | |
XM_011516970.1:c.215-1410C>T (GML) | XP_011515272.1:n.215-1410C>T |