HGVS | Genome Assembly |
---|---|
NC_000008.11:g.142914274C>A , CM000670.2:g.142914274C>A | GRCh38 |
NC_000008.10:g.143995690C>A , CM000670.1:g.143995690C>A | GRCh37 |
NC_000008.9:g.143992692C>A | NCBI36 |
NG_008374.1:g.8570G>T |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000323110.2:c.944G>T (CYP11B2) MANE Select | ENSP00000325822.2:p.Ser315Ile | |
ENST00000522728.5:c.264+229C>A (GML) | ENSP00000430799.1:n.264+229C>A | |
NM_000498.3:c.944G>T (CYP11B2) MANE Select | NP_000489.3:p.Ser315Ile | |
XM_011516877.1:c.1022G>T (CYP11B2) | XP_011515179.1:p.Ser341Ile | |
XM_011516878.1:c.1022G>T (CYP11B2) | XP_011515180.1:p.Ser341Ile | |
XM_011516879.1:c.944G>T (CYP11B2) | XP_011515181.1:p.Ser315Ile | |
XM_011516970.1:c.297+229C>A (GML) | XP_011515272.1:n.297+229C>A |