HGVS | Genome Assembly |
---|---|
NC_000008.11:g.142912006G>A , CM000670.2:g.142912006G>A | GRCh38 |
NC_000008.10:g.143993422G>A , CM000670.1:g.143993422G>A | GRCh37 |
NC_000008.9:g.143990424G>A | NCBI36 |
NG_008374.1:g.10838C>T |
HGVS | Amino-acid change | |
---|---|---|
ENST00000323110.2:c.1486C>T (CYP11B2) MANE Select | ENSP00000325822.2:p.Leu496Phe | |
ENST00000522728.5:c.182-1957G>A (GML) | ENSP00000430799.1:n.182-1957G>A | |
NM_000498.3:c.1486C>T (CYP11B2) MANE Select | NP_000489.3:p.Leu496Phe | |
XM_011516877.1:c.1633C>T (CYP11B2) | XP_011515179.1:p.Leu545Phe | |
XM_011516878.1:c.1564C>T (CYP11B2) | XP_011515180.1:p.Leu522Phe | |
XM_011516879.1:c.1555C>T (CYP11B2) | XP_011515181.1:p.Leu519Phe | |
XM_011516970.1:c.215-1957G>A (GML) | XP_011515272.1:n.215-1957G>A |