HGVS | Genome Assembly |
---|---|
NC_000008.11:g.142914280G>T , CM000670.2:g.142914280G>T | GRCh38 |
NC_000008.10:g.143995696G>T , CM000670.1:g.143995696G>T | GRCh37 |
NC_000008.9:g.143992698G>T | NCBI36 |
NG_008374.1:g.8564C>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000323110.2:c.938C>A (CYP11B2) MANE Select | ENSP00000325822.2:p.Ala313Glu | |
ENST00000522728.5:c.264+235G>T (GML) | ENSP00000430799.1:n.264+235G>T | |
NM_000498.3:c.938C>A (CYP11B2) MANE Select | NP_000489.3:p.Ala313Glu | |
XM_011516877.1:c.1016C>A (CYP11B2) | XP_011515179.1:p.Ala339Glu | |
XM_011516878.1:c.1016C>A (CYP11B2) | XP_011515180.1:p.Ala339Glu | |
XM_011516879.1:c.938C>A (CYP11B2) | XP_011515181.1:p.Ala313Glu | |
XM_011516970.1:c.297+235G>T (GML) | XP_011515272.1:n.297+235G>T |