HGVS | Genome Assembly |
---|---|
NC_000005.10:g.67184086C>G , CM000667.2:g.67184086C>G | GRCh38 |
NC_000005.9:g.66479914C>G , CM000667.1:g.66479914C>G | GRCh37 |
NC_000005.8:g.66515670C>G | NCBI36 |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000256447.5:c.757G>C MANE Select | ENSP00000256447.4:p.Gly253Arg | |
NM_005582.2:c.757G>C | NP_005573.2:p.Gly253Arg | |
XM_005248504.3:c.718G>C | XP_005248561.1:p.Gly240Arg | |
XM_005248504.4:c.718G>C | XP_005248561.1:p.Gly240Arg | |
NM_005582.3:c.757G>C MANE Select | NP_005573.2:p.Gly253Arg |