HGVS | Genome Assembly |
---|---|
NC_000008.11:g.142912009G>C , CM000670.2:g.142912009G>C | GRCh38 |
NC_000008.10:g.143993425G>C , CM000670.1:g.143993425G>C | GRCh37 |
NC_000008.9:g.143990427G>C | NCBI36 |
NG_008374.1:g.10835C>G |
HGVS | Amino-acid change | |
---|---|---|
ENST00000323110.2:c.1483C>G (CYP11B2) MANE Select | ENSP00000325822.2:p.Pro495Ala | |
ENST00000522728.5:c.182-1954G>C (GML) | ENSP00000430799.1:n.182-1954G>C | |
NM_000498.3:c.1483C>G (CYP11B2) MANE Select | NP_000489.3:p.Pro495Ala | |
XM_011516877.1:c.1630C>G (CYP11B2) | XP_011515179.1:p.Pro544Ala | |
XM_011516878.1:c.1561C>G (CYP11B2) | XP_011515180.1:p.Pro521Ala | |
XM_011516879.1:c.1552C>G (CYP11B2) | XP_011515181.1:p.Pro518Ala | |
XM_011516970.1:c.215-1954G>C (GML) | XP_011515272.1:n.215-1954G>C |