HGVS | Genome Assembly |
---|---|
NC_000008.11:g.142914719C>A , CM000670.2:g.142914719C>A | GRCh38 |
NC_000008.10:g.143996135C>A , CM000670.1:g.143996135C>A | GRCh37 |
NC_000008.9:g.143993137C>A | NCBI36 |
NG_008374.1:g.8125G>T |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000323110.2:c.785G>T (CYP11B2) MANE Select | ENSP00000325822.2:p.Cys262Phe | |
ENST00000522728.5:c.264+674C>A (GML) | ENSP00000430799.1:n.264+674C>A | |
NM_000498.3:c.785G>T (CYP11B2) MANE Select | NP_000489.3:p.Cys262Phe | |
XM_011516877.1:c.863G>T (CYP11B2) | XP_011515179.1:p.Cys288Phe | |
XM_011516878.1:c.863G>T (CYP11B2) | XP_011515180.1:p.Cys288Phe | |
XM_011516879.1:c.785G>T (CYP11B2) | XP_011515181.1:p.Cys262Phe | |
XM_011516970.1:c.297+674C>A (GML) | XP_011515272.1:n.297+674C>A |