HGVS | Genome Assembly |
---|---|
NC_000016.10:g.89919731T>A , CM000678.2:g.89919731T>A | GRCh38 |
NC_000016.9:g.89986139T>A , CM000678.1:g.89986139T>A | GRCh37 |
NC_000016.8:g.88513640T>A | NCBI36 |
NG_012026.1:g.6853T>A | |
NG_027810.1:g.2723T>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000555147.2:c.473T>A MANE Select | ENSP00000451605.1:p.Leu158Gln | |
ENST00000639847.1:c.473T>A | ENSP00000492011.1:p.Leu158Gln | |
ENST00000555147.1:c.473T>A | ENSP00000451605.1:p.Leu158Gln | |
ENST00000555427.1:c.473T>A | ENSP00000451760.1:p.Leu158Gln | |
ENST00000556922.1:c.473T>A | ENSP00000451560.1:p.Leu158Gln | |
NM_002386.3:c.473T>A | NP_002377.4:p.Leu158Gln | |
NM_002386.4:c.473T>A MANE Select | NP_002377.4:p.Leu158Gln |