HGVS | Genome Assembly |
---|---|
NC_000008.11:g.142914301G>A , CM000670.2:g.142914301G>A | GRCh38 |
NC_000008.10:g.143995717G>A , CM000670.1:g.143995717G>A | GRCh37 |
NC_000008.9:g.143992719G>A | NCBI36 |
NG_008374.1:g.8543C>T |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000323110.2:c.917C>T (CYP11B2) MANE Select | ENSP00000325822.2:p.Ala306Val | |
ENST00000522728.5:c.264+256G>A (GML) | ENSP00000430799.1:n.264+256G>A | |
NM_000498.3:c.917C>T (CYP11B2) MANE Select | NP_000489.3:p.Ala306Val | |
XM_011516877.1:c.995C>T (CYP11B2) | XP_011515179.1:p.Ala332Val | |
XM_011516878.1:c.995C>T (CYP11B2) | XP_011515180.1:p.Ala332Val | |
XM_011516879.1:c.917C>T (CYP11B2) | XP_011515181.1:p.Ala306Val | |
XM_011516970.1:c.297+256G>A (GML) | XP_011515272.1:n.297+256G>A |