HGVS | Genome Assembly |
---|---|
NC_000023.11:g.153726104C>A , CM000685.2:g.153726104C>A | GRCh38 |
NC_000023.10:g.152991559C>A , CM000685.1:g.152991559C>A | GRCh37 |
NC_000023.9:g.152644753C>A | NCBI36 |
NG_009022.2:g.6237C>A | |
NG_023231.1:g.3643G>T |
HGVS | Amino-acid change | |
---|---|---|
ENST00000218104.6:c.838C>A MANE Select | ENSP00000218104.3:p.Arg280Ser | |
ENST00000218104.5:c.838C>A | ENSP00000218104.3:p.Arg280Ser | |
ENST00000370129.4:c.283C>A | ENSP00000359147.3:p.Arg95Ser | |
NM_000033.3:c.838C>A | NP_000024.2:p.Arg280Ser | |
XR_938507.1:n.1254C>A | ||
XR_938507.2:n.1254C>A | ||
NM_000033.4:c.838C>A MANE Select | NP_000024.2:p.Arg280Ser |