HGVS | Genome Assembly |
---|---|
NC_000008.11:g.142912003G= , CM000670.2:g.142912003G= | GRCh38 |
NC_000008.10:g.143993419G= , CM000670.1:g.143993419G= | GRCh37 |
NC_000008.9:g.143990421G= | NCBI36 |
NG_008374.1:g.10841C= |
HGVS | Amino-acid change | |
---|---|---|
ENST00000323110.2:c.1489C= (CYP11B2) MANE Select | ENSP00000325822.2:p.Leu497= | |
ENST00000522728.5:c.182-1960G= (GML) | ENSP00000430799.1:n.182-1960G= | |
NM_000498.3:c.1489C= (CYP11B2) MANE Select | NP_000489.3:p.Leu497= | |
XM_011516877.1:c.1636C= (CYP11B2) | XP_011515179.1:p.Leu546= | |
XM_011516878.1:c.1567C= (CYP11B2) | XP_011515180.1:p.Leu523= | |
XM_011516879.1:c.1558C= (CYP11B2) | XP_011515181.1:p.Leu520= | |
XM_011516970.1:c.215-1960G= (GML) | XP_011515272.1:n.215-1960G= |