HGVS | Genome Assembly |
---|---|
NC_000011.10:g.55812006T>G , CM000673.2:g.55812006T>G | GRCh38 |
NC_000011.9:g.55579482T>G , CM000673.1:g.55579482T>G | GRCh37 |
NC_000011.8:g.55336058T>G | NCBI36 |
NG_052620.1:g.5640T>G |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000625203.2:c.540T>G MANE Select | ENSP00000485319.1:p.Asp180Glu | |
ENST00000333973.3:c.540T>G | ENSP00000335529.2:p.Asp180Glu | |
ENST00000623450.1:c.540T>G | ENSP00000485509.1:p.Asp180Glu | |
ENST00000625203.1:c.540T>G | ENSP00000485319.1:p.Asp180Glu | |
NM_001004738.1:c.540T>G | NP_001004738.1:p.Asp180Glu | |
NM_001004738.2:c.540T>G MANE Select | NP_001004738.1:p.Asp180Glu |