HGVS | Genome Assembly |
---|---|
NC_000017.11:g.17798141G>A , CM000679.2:g.17798141G>A | GRCh38 |
NC_000017.10:g.17701455G>A , CM000679.1:g.17701455G>A | GRCh37 |
NC_000017.9:g.17642180G>A | NCBI36 |
NG_007101.2:g.121669G>A |
HGVS | Amino-acid change | |
---|---|---|
ENST00000353383.6:c.5193G>A MANE Select | ENSP00000323074.4:p.Glu1731= | |
ENST00000640861.1:c.4857G>A | ENSP00000491773.1:p.Glu1619= | |
ENST00000353383.5:c.5193G>A | ENSP00000323074.4:p.Glu1731= | |
NM_030665.3:c.5193G>A | NP_109590.3:p.Glu1731= | |
XM_017024025.1:c.5193G>A | XP_016879514.1:p.Glu1731= | |
XM_017024026.1:c.5193G>A | XP_016879515.1:p.Glu1731= | |
XM_017024027.1:c.5193G>A | XP_016879516.1:p.Glu1731= | |
XM_017024028.2:c.5193G>A | XP_016879517.1:p.Glu1731= | |
NM_030665.4:c.5193G>A MANE Select | NP_109590.3:p.Glu1731= |