HGVS | Genome Assembly |
---|---|
NC_000008.11:g.142912012A>T , CM000670.2:g.142912012A>T | GRCh38 |
NC_000008.10:g.143993428A>T , CM000670.1:g.143993428A>T | GRCh37 |
NC_000008.9:g.143990430A>T | NCBI36 |
NG_008374.1:g.10832T>A |
HGVS | Amino-acid change | |
---|---|---|
ENST00000323110.2:c.1480T>A (CYP11B2) MANE Select | ENSP00000325822.2:p.Ser494Thr | |
ENST00000522728.5:c.182-1951A>T (GML) | ENSP00000430799.1:n.182-1951A>T | |
NM_000498.3:c.1480T>A (CYP11B2) MANE Select | NP_000489.3:p.Ser494Thr | |
XM_011516877.1:c.1627T>A (CYP11B2) | XP_011515179.1:p.Ser543Thr | |
XM_011516878.1:c.1558T>A (CYP11B2) | XP_011515180.1:p.Ser520Thr | |
XM_011516879.1:c.1549T>A (CYP11B2) | XP_011515181.1:p.Ser517Thr | |
XM_011516970.1:c.215-1951A>T (GML) | XP_011515272.1:n.215-1951A>T |