HGVS | Genome Assembly |
---|---|
NC_000016.10:g.89919916G>C , CM000678.2:g.89919916G>C | GRCh38 |
NC_000016.9:g.89986324G>C , CM000678.1:g.89986324G>C | GRCh37 |
NC_000016.8:g.88513825G>C | NCBI36 |
NG_012026.1:g.7038G>C | |
NG_027810.1:g.2908G>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000555147.2:c.658G>C MANE Select | ENSP00000451605.1:p.Gly220Arg | |
ENST00000639847.1:c.658G>C | ENSP00000492011.1:p.Gly220Arg | |
ENST00000555147.1:c.658G>C | ENSP00000451605.1:p.Gly220Arg | |
ENST00000555427.1:c.658G>C | ENSP00000451760.1:p.Gly220Arg | |
ENST00000556922.1:c.658G>C | ENSP00000451560.1:p.Gly220Arg | |
NM_002386.3:c.658G>C | NP_002377.4:p.Gly220Arg | |
NM_002386.4:c.658G>C MANE Select | NP_002377.4:p.Gly220Arg |