HGVS | Genome Assembly |
---|---|
NC_000008.11:g.142912007G>T , CM000670.2:g.142912007G>T | GRCh38 |
NC_000008.10:g.143993423G>T , CM000670.1:g.143993423G>T | GRCh37 |
NC_000008.9:g.143990425G>T | NCBI36 |
NG_008374.1:g.10837C>A |
HGVS | Amino-acid change | |
---|---|---|
ENST00000323110.2:c.1485C>A (CYP11B2) MANE Select | ENSP00000325822.2:p.Pro495= | |
ENST00000522728.5:c.182-1956G>T (GML) | ENSP00000430799.1:n.182-1956G>T | |
NM_000498.3:c.1485C>A (CYP11B2) MANE Select | NP_000489.3:p.Pro495= | |
XM_011516877.1:c.1632C>A (CYP11B2) | XP_011515179.1:p.Pro544= | |
XM_011516878.1:c.1563C>A (CYP11B2) | XP_011515180.1:p.Pro521= | |
XM_011516879.1:c.1554C>A (CYP11B2) | XP_011515181.1:p.Pro518= | |
XM_011516970.1:c.215-1956G>T (GML) | XP_011515272.1:n.215-1956G>T |