HGVS | Genome Assembly |
---|---|
NC_000011.10:g.55811531A>T , CM000673.2:g.55811531A>T | GRCh38 |
NC_000011.9:g.55579007A>T , CM000673.1:g.55579007A>T | GRCh37 |
NC_000011.8:g.55335583A>T | NCBI36 |
NG_052620.1:g.5165A>T |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000625203.2:c.65A>T MANE Select | ENSP00000485319.1:p.Glu22Val | |
ENST00000333973.3:c.65A>T | ENSP00000335529.2:p.Glu22Val | |
ENST00000623450.1:c.65A>T | ENSP00000485509.1:p.Glu22Val | |
ENST00000625203.1:c.65A>T | ENSP00000485319.1:p.Glu22Val | |
NM_001004738.1:c.65A>T | NP_001004738.1:p.Glu22Val | |
NM_001004738.2:c.65A>T MANE Select | NP_001004738.1:p.Glu22Val |