HGVS | Genome Assembly |
---|---|
NC_000008.11:g.142912000T>G , CM000670.2:g.142912000T>G | GRCh38 |
NC_000008.10:g.143993416T>G , CM000670.1:g.143993416T>G | GRCh37 |
NC_000008.9:g.143990418T>G | NCBI36 |
NG_008374.1:g.10844A>C |
HGVS | Amino-acid change | |
---|---|---|
ENST00000323110.2:c.1492A>C (CYP11B2) MANE Select | ENSP00000325822.2:p.Thr498Pro | |
ENST00000522728.5:c.182-1963T>G (GML) | ENSP00000430799.1:n.182-1963T>G | |
NM_000498.3:c.1492A>C (CYP11B2) MANE Select | NP_000489.3:p.Thr498Pro | |
XM_011516877.1:c.1639A>C (CYP11B2) | XP_011515179.1:p.Thr547Pro | |
XM_011516878.1:c.1570A>C (CYP11B2) | XP_011515180.1:p.Thr524Pro | |
XM_011516879.1:c.1561A>C (CYP11B2) | XP_011515181.1:p.Thr521Pro | |
XM_011516970.1:c.215-1963T>G (GML) | XP_011515272.1:n.215-1963T>G |