HGVS | Genome Assembly |
---|---|
NC_000008.11:g.142914750C>G , CM000670.2:g.142914750C>G | GRCh38 |
NC_000008.10:g.143996166C>G , CM000670.1:g.143996166C>G | GRCh37 |
NC_000008.9:g.143993168C>G | NCBI36 |
NG_008374.1:g.8094G>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000323110.2:c.754G>C (CYP11B2) MANE Select | ENSP00000325822.2:p.Val252Leu | |
ENST00000522728.5:c.264+705C>G (GML) | ENSP00000430799.1:n.264+705C>G | |
NM_000498.3:c.754G>C (CYP11B2) MANE Select | NP_000489.3:p.Val252Leu | |
XM_011516877.1:c.832G>C (CYP11B2) | XP_011515179.1:p.Val278Leu | |
XM_011516878.1:c.832G>C (CYP11B2) | XP_011515180.1:p.Val278Leu | |
XM_011516879.1:c.754G>C (CYP11B2) | XP_011515181.1:p.Val252Leu | |
XM_011516970.1:c.297+705C>G (GML) | XP_011515272.1:n.297+705C>G |