HGVS | Genome Assembly |
---|---|
NC_000008.11:g.142912550T>A , CM000670.2:g.142912550T>A | GRCh38 |
NC_000008.10:g.143993966T>A , CM000670.1:g.143993966T>A | GRCh37 |
NC_000008.9:g.143990968T>A | NCBI36 |
NG_008374.1:g.10294A>T |
HGVS | Amino-acid change | |
---|---|---|
ENST00000323110.2:c.1378A>T (CYP11B2) MANE Select | ENSP00000325822.2:p.Met460Leu | |
ENST00000522728.5:c.182-1413T>A (GML) | ENSP00000430799.1:n.182-1413T>A | |
NM_000498.3:c.1378A>T (CYP11B2) MANE Select | NP_000489.3:p.Met460Leu | |
XM_011516877.1:c.1525A>T (CYP11B2) | XP_011515179.1:p.Met509Leu | |
XM_011516878.1:c.1456A>T (CYP11B2) | XP_011515180.1:p.Met486Leu | |
XM_011516879.1:c.1447A>T (CYP11B2) | XP_011515181.1:p.Met483Leu | |
XM_011516970.1:c.215-1413T>A (GML) | XP_011515272.1:n.215-1413T>A |