HGVS | Genome Assembly |
---|---|
NC_000012.12:g.76346280T>G , CM000674.2:g.76346280T>G | GRCh38 |
NC_000012.11:g.76740060T>G , CM000674.1:g.76740060T>G | GRCh37 |
NC_000012.10:g.75264191T>G | NCBI36 |
NG_016357.1:g.7163A>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000650064.2:c.1705A>C MANE Select | ENSP00000497413.1:p.Arg569= | |
ENST00000393262.3:c.1705A>C | ENSP00000376946.3:p.Arg569= | |
NM_024685.3:c.1705A>C | NP_078961.3:p.Arg569= | |
NM_024685.4:c.1705A>C MANE Select | NP_078961.3:p.Arg569= |