HGVS | Genome Assembly |
---|---|
NC_000019.10:g.2251898G>A , CM000681.2:g.2251898G>A | GRCh38 |
NC_000019.9:g.2251897G>A , CM000681.1:g.2251897G>A | GRCh37 |
NC_000019.8:g.2202897G>A | NCBI36 |
NG_012190.1:g.7785G>A | |
NG_032853.1:g.9526C>T |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000221496.5:c.1624G>A MANE Select | ENSP00000221496.2:p.Glu542Lys | |
ENST00000221496.4:c.1624G>A | ENSP00000221496.2:p.Glu542Lys | |
NM_000479.3:c.1624G>A | NP_000470.2:p.Glu542Lys | |
NM_000479.4:c.1624G>A | NP_000470.2:p.Glu542Lys | |
NM_000479.5:c.1624G>A MANE Select | NP_000470.3:p.Glu542Lys |