HGVS | Genome Assembly |
---|---|
NC_000008.11:g.142912567C>G , CM000670.2:g.142912567C>G | GRCh38 |
NC_000008.10:g.143993983C>G , CM000670.1:g.143993983C>G | GRCh37 |
NC_000008.9:g.143990985C>G | NCBI36 |
NG_008374.1:g.10277G>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000323110.2:c.1361G>C (CYP11B2) MANE Select | ENSP00000325822.2:p.Arg454Pro | |
ENST00000522728.5:c.182-1396C>G (GML) | ENSP00000430799.1:n.182-1396C>G | |
NM_000498.3:c.1361G>C (CYP11B2) MANE Select | NP_000489.3:p.Arg454Pro | |
XM_011516877.1:c.1508G>C (CYP11B2) | XP_011515179.1:p.Arg503Pro | |
XM_011516878.1:c.1439G>C (CYP11B2) | XP_011515180.1:p.Arg480Pro | |
XM_011516879.1:c.1430G>C (CYP11B2) | XP_011515181.1:p.Arg477Pro | |
XM_011516970.1:c.215-1396C>G (GML) | XP_011515272.1:n.215-1396C>G |