HGVS | Genome Assembly |
---|---|
NC_000008.11:g.142912392C>A , CM000670.2:g.142912392C>A | GRCh38 |
NC_000008.10:g.143993808C>A , CM000670.1:g.143993808C>A | GRCh37 |
NC_000008.9:g.143990810C>A | NCBI36 |
NG_008374.1:g.10452G>T |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000323110.2:c.1398+138G>T (CYP11B2) MANE Select | ENSP00000325822.2:n.1398+138G>T | |
ENST00000522728.5:c.182-1571C>A (GML) | ENSP00000430799.1:n.182-1571C>A | |
NM_000498.3:c.1398+138G>T (CYP11B2) MANE Select | NP_000489.3:n.1398+138G>T | |
XM_011516877.1:c.1545+138G>T (CYP11B2) | XP_011515179.1:n.1545+138G>T | |
XM_011516878.1:c.1476+138G>T (CYP11B2) | XP_011515180.1:n.1476+138G>T | |
XM_011516879.1:c.1467+138G>T (CYP11B2) | XP_011515181.1:n.1467+138G>T | |
XM_011516970.1:c.215-1571C>A (GML) | XP_011515272.1:n.215-1571C>A |