HGVS | Genome Assembly |
---|---|
NC_000008.11:g.142914539G>A , CM000670.2:g.142914539G>A | GRCh38 |
NC_000008.10:g.143995955G>A , CM000670.1:g.143995955G>A | GRCh37 |
NC_000008.9:g.143992957G>A | NCBI36 |
NG_008374.1:g.8305C>T |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000323110.2:c.800-121C>T (CYP11B2) MANE Select | ENSP00000325822.2:n.800-121C>T | |
ENST00000522728.5:c.264+494G>A (GML) | ENSP00000430799.1:n.264+494G>A | |
NM_000498.3:c.800-121C>T (CYP11B2) MANE Select | NP_000489.3:n.800-121C>T | |
XM_011516877.1:c.878-121C>T (CYP11B2) | XP_011515179.1:n.878-121C>T | |
XM_011516878.1:c.878-121C>T (CYP11B2) | XP_011515180.1:n.878-121C>T | |
XM_011516879.1:c.800-121C>T (CYP11B2) | XP_011515181.1:n.800-121C>T | |
XM_011516970.1:c.297+494G>A (GML) | XP_011515272.1:n.297+494G>A |