HGVS | Genome Assembly |
---|---|
NC_000015.10:g.43048433C>T , CM000677.2:g.43048433C>T | GRCh38 |
NC_000015.9:g.43340631C>T , CM000677.1:g.43340631C>T | GRCh37 |
NC_000015.8:g.41127923C>T | NCBI36 |
NG_012182.1:g.62656G>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000290650.9:c.1498G>A MANE Select | ENSP00000290650.4:p.Glu500Lys | |
ENST00000290650.8:c.1498G>A | ENSP00000290650.4:p.Glu500Lys | |
ENST00000546274.6:c.1498G>A | ENSP00000477932.1:p.Glu500Lys | |
ENST00000563239.1:c.*203-1144G>A | ENSP00000456502.1:n.*203-1144G>A | |
ENST00000569971.5:c.369G>A | ENSP00000455759.1:n.369G>A | |
NM_174916.2:c.1498G>A | NP_777576.1:p.Glu500Lys | |
NM_174916.3:c.1498G>A MANE Select | NP_777576.1:p.Glu500Lys |