HGVS | Genome Assembly |
---|---|
NC_000008.11:g.142912556C>T , CM000670.2:g.142912556C>T | GRCh38 |
NC_000008.10:g.143993972C>T , CM000670.1:g.143993972C>T | GRCh37 |
NC_000008.9:g.143990974C>T | NCBI36 |
NG_008374.1:g.10288G>A |
HGVS | Amino-acid change | |
---|---|---|
ENST00000323110.2:c.1372G>A (CYP11B2) MANE Select | ENSP00000325822.2:p.Ala458Thr | |
ENST00000522728.5:c.182-1407C>T (GML) | ENSP00000430799.1:n.182-1407C>T | |
NM_000498.3:c.1372G>A (CYP11B2) MANE Select | NP_000489.3:p.Ala458Thr | |
XM_011516877.1:c.1519G>A (CYP11B2) | XP_011515179.1:p.Ala507Thr | |
XM_011516878.1:c.1450G>A (CYP11B2) | XP_011515180.1:p.Ala484Thr | |
XM_011516879.1:c.1441G>A (CYP11B2) | XP_011515181.1:p.Ala481Thr | |
XM_011516970.1:c.215-1407C>T (GML) | XP_011515272.1:n.215-1407C>T |