HGVS | Genome Assembly |
---|---|
NC_000008.11:g.142914267G>C , CM000670.2:g.142914267G>C | GRCh38 |
NC_000008.10:g.143995683G>C , CM000670.1:g.143995683G>C | GRCh37 |
NC_000008.9:g.143992685G>C | NCBI36 |
NG_008374.1:g.8577C>G |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000323110.2:c.951C>G (CYP11B2) MANE Select | ENSP00000325822.2:p.Asp317Glu | |
ENST00000522728.5:c.264+222G>C (GML) | ENSP00000430799.1:n.264+222G>C | |
NM_000498.3:c.951C>G (CYP11B2) MANE Select | NP_000489.3:p.Asp317Glu | |
XM_011516877.1:c.1029C>G (CYP11B2) | XP_011515179.1:p.Asp343Glu | |
XM_011516878.1:c.1029C>G (CYP11B2) | XP_011515180.1:p.Asp343Glu | |
XM_011516879.1:c.951C>G (CYP11B2) | XP_011515181.1:p.Asp317Glu | |
XM_011516970.1:c.297+222G>C (GML) | XP_011515272.1:n.297+222G>C |