HGVS | Genome Assembly |
---|---|
NC_000016.10:g.67436598A>G , CM000678.2:g.67436598A>G | GRCh38 |
NC_000016.9:g.67470501A>G , CM000678.1:g.67470501A>G | GRCh37 |
NC_000016.8:g.66028002A>G | NCBI36 |
NG_011482.1:g.49589T>C | |
NG_016549.1:g.10466A>G |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000326152.6:c.813A>G MANE Select | ENSP00000316786.5:p.Arg271= | |
ENST00000326152.5:c.813A>G | ENSP00000316786.5:p.Arg271= | |
NM_000196.3:c.813A>G | NP_000187.3:p.Arg271= | |
NM_000196.4:c.813A>G MANE Select | NP_000187.3:p.Arg271= |