HGVS | Genome Assembly |
---|---|
NC_000008.11:g.142914406A>C , CM000670.2:g.142914406A>C | GRCh38 |
NC_000008.10:g.143995822A>C , CM000670.1:g.143995822A>C | GRCh37 |
NC_000008.9:g.143992824A>C | NCBI36 |
NG_008374.1:g.8438T>G |
HGVS | Amino-acid change | |
---|---|---|
ENST00000323110.2:c.812T>G (CYP11B2) MANE Select | ENSP00000325822.2:p.Ile271Ser | |
ENST00000522728.5:c.264+361A>C (GML) | ENSP00000430799.1:n.264+361A>C | |
NM_000498.3:c.812T>G (CYP11B2) MANE Select | NP_000489.3:p.Ile271Ser | |
XM_011516877.1:c.890T>G (CYP11B2) | XP_011515179.1:p.Ile297Ser | |
XM_011516878.1:c.890T>G (CYP11B2) | XP_011515180.1:p.Ile297Ser | |
XM_011516879.1:c.812T>G (CYP11B2) | XP_011515181.1:p.Ile271Ser | |
XM_011516970.1:c.297+361A>C (GML) | XP_011515272.1:n.297+361A>C |