HGVS | Genome Assembly |
---|---|
NC_000008.11:g.142914341G>C , CM000670.2:g.142914341G>C | GRCh38 |
NC_000008.10:g.143995757G>C , CM000670.1:g.143995757G>C | GRCh37 |
NC_000008.9:g.143992759G>C | NCBI36 |
NG_008374.1:g.8503C>G |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000323110.2:c.877C>G (CYP11B2) MANE Select | ENSP00000325822.2:p.Leu293Val | |
ENST00000522728.5:c.264+296G>C (GML) | ENSP00000430799.1:n.264+296G>C | |
NM_000498.3:c.877C>G (CYP11B2) MANE Select | NP_000489.3:p.Leu293Val | |
XM_011516877.1:c.955C>G (CYP11B2) | XP_011515179.1:p.Leu319Val | |
XM_011516878.1:c.955C>G (CYP11B2) | XP_011515180.1:p.Leu319Val | |
XM_011516879.1:c.877C>G (CYP11B2) | XP_011515181.1:p.Leu293Val | |
XM_011516970.1:c.297+296G>C (GML) | XP_011515272.1:n.297+296G>C |