HGVS | Genome Assembly |
---|---|
NC_000008.11:g.142914411G>T , CM000670.2:g.142914411G>T | GRCh38 |
NC_000008.10:g.143995827G>T , CM000670.1:g.143995827G>T | GRCh37 |
NC_000008.9:g.143992829G>T | NCBI36 |
NG_008374.1:g.8433C>A |
HGVS | Amino-acid change | |
---|---|---|
ENST00000323110.2:c.807C>A (CYP11B2) MANE Select | ENSP00000325822.2:p.Asn269Lys | |
ENST00000522728.5:c.264+366G>T (GML) | ENSP00000430799.1:n.264+366G>T | |
NM_000498.3:c.807C>A (CYP11B2) MANE Select | NP_000489.3:p.Asn269Lys | |
XM_011516877.1:c.885C>A (CYP11B2) | XP_011515179.1:p.Asn295Lys | |
XM_011516878.1:c.885C>A (CYP11B2) | XP_011515180.1:p.Asn295Lys | |
XM_011516879.1:c.807C>A (CYP11B2) | XP_011515181.1:p.Asn269Lys | |
XM_011516970.1:c.297+366G>T (GML) | XP_011515272.1:n.297+366G>T |