HGVS | Genome Assembly |
---|---|
NC_000010.11:g.119326516G>A , CM000672.2:g.119326516G>A | GRCh38 |
NC_000010.10:g.121086028G>A , CM000672.1:g.121086028G>A | GRCh37 |
NC_000010.9:g.121076018G>A | NCBI36 |
HGVS | Amino-acid change | |
---|---|---|
ENST00000392870.3:c.53G>A MANE Select | ENSP00000376609.2:p.Gly18Glu | |
ENST00000392870.2:c.53G>A | ENSP00000376609.2:p.Gly18Glu | |
NM_005308.2:c.53G>A | NP_005299.1:p.Gly18Glu | |
XM_005269707.1:c.53G>A | XP_005269764.1:p.Gly18Glu | |
XM_005269708.1:c.53-54299G>A | XP_005269765.1:n.53-54299G>A | |
XM_005269707.2:c.53G>A | XP_005269764.1:p.Gly18Glu | |
NM_005308.3:c.53G>A MANE Select | NP_005299.1:p.Gly18Glu |