HGVS | Genome Assembly |
---|---|
NC_000008.11:g.19954328C>G , CM000670.2:g.19954328C>G | GRCh38 |
NC_000008.10:g.19811839C>G , CM000670.1:g.19811839C>G | GRCh37 |
NC_000008.9:g.19856119C>G | NCBI36 |
NG_008855.1:g.20258C>G | |
NG_008855.2:g.57612C>G |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000650287.1:c.750C>G MANE Select | ENSP00000497642.1:p.Arg250= | |
ENST00000311322.8:c.750C>G | ENSP00000309757.6:p.Arg250= | |
NM_000237.2:c.750C>G | NP_000228.1:p.Arg250= | |
NM_000237.3:c.750C>G MANE Select | NP_000228.1:p.Arg250= |