HGVS | Genome Assembly |
---|---|
NC_000008.11:g.142912001G>T , CM000670.2:g.142912001G>T | GRCh38 |
NC_000008.10:g.143993417G>T , CM000670.1:g.143993417G>T | GRCh37 |
NC_000008.9:g.143990419G>T | NCBI36 |
NG_008374.1:g.10843C>A |
HGVS | Amino-acid change | |
---|---|---|
ENST00000323110.2:c.1491C>A (CYP11B2) MANE Select | ENSP00000325822.2:p.Leu497= | |
ENST00000522728.5:c.182-1962G>T (GML) | ENSP00000430799.1:n.182-1962G>T | |
NM_000498.3:c.1491C>A (CYP11B2) MANE Select | NP_000489.3:p.Leu497= | |
XM_011516877.1:c.1638C>A (CYP11B2) | XP_011515179.1:p.Leu546= | |
XM_011516878.1:c.1569C>A (CYP11B2) | XP_011515180.1:p.Leu523= | |
XM_011516879.1:c.1560C>A (CYP11B2) | XP_011515181.1:p.Leu520= | |
XM_011516970.1:c.215-1962G>T (GML) | XP_011515272.1:n.215-1962G>T |