HGVS | Genome Assembly |
---|---|
NC_000005.10:g.146340207A>G , CM000667.2:g.146340207A>G | GRCh38 |
NC_000005.9:g.145719770A>G , CM000667.1:g.145719770A>G | GRCh37 |
NC_000005.8:g.145699963A>G | NCBI36 |
NG_011885.1:g.6184A>G |
HGVS | Amino-acid change | |
---|---|---|
ENST00000646991.2:c.780A>G MANE Select | ENSP00000495718.1:p.Arg260= | |
ENST00000230732.4:c.780A>G | ENSP00000230732.4:p.Arg260= | |
NM_002700.2:c.780A>G | NP_002691.1:p.Arg260= | |
NM_002700.3:c.780A>G MANE Select | NP_002691.1:p.Arg260= |