HGVS | Genome Assembly |
---|---|
NC_000005.10:g.148827631A>G , CM000667.2:g.148827631A>G | GRCh38 |
NC_000005.9:g.148207194A>G , CM000667.1:g.148207194A>G | GRCh37 |
NC_000005.8:g.148187387A>G | NCBI36 |
NG_016421.1:g.6039A>G | |
NG_016421.2:g.6039A>G |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000305988.6:c.800A>G MANE Select | ENSP00000305372.4:p.Lys267Arg | |
ENST00000305988.5:c.800A>G | ENSP00000305372.4:p.Lys267Arg | |
NM_000024.5:c.800A>G | NP_000015.1:p.Lys267Arg | |
NM_000024.6:c.800A>G MANE Select | NP_000015.2:p.Lys267Arg |