HGVS | Genome Assembly |
---|---|
NC_000019.10:g.41091846C>A , CM000681.2:g.41091846C>A | GRCh38 |
NC_000019.9:g.41597751C>A , CM000681.1:g.41597751C>A | GRCh37 |
NC_000019.8:g.46289591C>A | NCBI36 |
NG_007928.1:g.8384C>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000330436.4:c.769C>A MANE Select | ENSP00000332679.1:p.Arg257Ser | |
ENST00000330436.3:c.769C>A | ENSP00000332679.1:p.Arg257Ser | |
NM_000766.4:c.769C>A | NP_000757.2:p.Arg257Ser | |
NM_000766.5:c.769C>A MANE Select | NP_000757.2:p.Arg257Ser |