HGVS | Genome Assembly |
---|---|
NC_000008.11:g.142912383C>A , CM000670.2:g.142912383C>A | GRCh38 |
NC_000008.10:g.143993799C>A , CM000670.1:g.143993799C>A | GRCh37 |
NC_000008.9:g.143990801C>A | NCBI36 |
NG_008374.1:g.10461G>T |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000323110.2:c.1398+147G>T (CYP11B2) MANE Select | ENSP00000325822.2:n.1398+147G>T | |
ENST00000522728.5:c.182-1580C>A (GML) | ENSP00000430799.1:n.182-1580C>A | |
NM_000498.3:c.1398+147G>T (CYP11B2) MANE Select | NP_000489.3:n.1398+147G>T | |
XM_011516877.1:c.1545+147G>T (CYP11B2) | XP_011515179.1:n.1545+147G>T | |
XM_011516878.1:c.1476+147G>T (CYP11B2) | XP_011515180.1:n.1476+147G>T | |
XM_011516879.1:c.1467+147G>T (CYP11B2) | XP_011515181.1:n.1467+147G>T | |
XM_011516970.1:c.215-1580C>A (GML) | XP_011515272.1:n.215-1580C>A |