HGVS | Genome Assembly |
---|---|
NC_000008.11:g.142914519C>T , CM000670.2:g.142914519C>T | GRCh38 |
NC_000008.10:g.143995935C>T , CM000670.1:g.143995935C>T | GRCh37 |
NC_000008.9:g.143992937C>T | NCBI36 |
NG_008374.1:g.8325G>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000323110.2:c.800-101G>A (CYP11B2) MANE Select | ENSP00000325822.2:n.800-101G>A | |
ENST00000522728.5:c.264+474C>T (GML) | ENSP00000430799.1:n.264+474C>T | |
NM_000498.3:c.800-101G>A (CYP11B2) MANE Select | NP_000489.3:n.800-101G>A | |
XM_011516877.1:c.878-101G>A (CYP11B2) | XP_011515179.1:n.878-101G>A | |
XM_011516878.1:c.878-101G>A (CYP11B2) | XP_011515180.1:n.878-101G>A | |
XM_011516879.1:c.800-101G>A (CYP11B2) | XP_011515181.1:n.800-101G>A | |
XM_011516970.1:c.297+474C>T (GML) | XP_011515272.1:n.297+474C>T |