HGVS | Genome Assembly |
---|---|
NC_000016.10:g.89919430C>A , CM000678.2:g.89919430C>A | GRCh38 |
NC_000016.9:g.89985838C>A , CM000678.1:g.89985838C>A | GRCh37 |
NC_000016.8:g.88513339C>A | NCBI36 |
NG_012026.1:g.6552C>A | |
NG_027810.1:g.2422C>A |
HGVS | Amino-acid change | |
---|---|---|
ENST00000555147.2:c.172C>A MANE Select | ENSP00000451605.1:p.Leu58Met | |
ENST00000639847.1:c.172C>A | ENSP00000492011.1:p.Leu58Met | |
ENST00000555147.1:c.172C>A | ENSP00000451605.1:p.Leu58Met | |
ENST00000555427.1:c.172C>A | ENSP00000451760.1:p.Leu58Met | |
ENST00000556922.1:c.172C>A | ENSP00000451560.1:p.Leu58Met | |
NM_002386.3:c.172C>A | NP_002377.4:p.Leu58Met | |
NM_002386.4:c.172C>A MANE Select | NP_002377.4:p.Leu58Met |