HGVS | Genome Assembly |
---|---|
NC_000008.11:g.142912012A>G , CM000670.2:g.142912012A>G | GRCh38 |
NC_000008.10:g.143993428A>G , CM000670.1:g.143993428A>G | GRCh37 |
NC_000008.9:g.143990430A>G | NCBI36 |
NG_008374.1:g.10832T>C |
HGVS | Amino-acid change | |
---|---|---|
ENST00000323110.2:c.1480T>C (CYP11B2) MANE Select | ENSP00000325822.2:p.Ser494Pro | |
ENST00000522728.5:c.182-1951A>G (GML) | ENSP00000430799.1:n.182-1951A>G | |
NM_000498.3:c.1480T>C (CYP11B2) MANE Select | NP_000489.3:p.Ser494Pro | |
XM_011516877.1:c.1627T>C (CYP11B2) | XP_011515179.1:p.Ser543Pro | |
XM_011516878.1:c.1558T>C (CYP11B2) | XP_011515180.1:p.Ser520Pro | |
XM_011516879.1:c.1549T>C (CYP11B2) | XP_011515181.1:p.Ser517Pro | |
XM_011516970.1:c.215-1951A>G (GML) | XP_011515272.1:n.215-1951A>G |