HGVS | Genome Assembly |
---|---|
NC_000019.10:g.10284116G>A , CM000681.2:g.10284116G>A | GRCh38 |
NC_000019.9:g.10394792G>A , CM000681.1:g.10394792G>A | GRCh37 |
NC_000019.8:g.10255792G>A | NCBI36 |
NG_007728.1:g.2143G>A | |
NG_012083.1:g.18276G>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000264832.8:c.721G>A MANE Select | ENSP00000264832.2:p.Gly241Arg | |
ENST00000264832.7:c.721G>A | ENSP00000264832.2:p.Gly241Arg | |
ENST00000423829.2:c.68-13G>A | ENSP00000413124.2:n.68-13G>A | |
NM_000201.2:c.721G>A | NP_000192.2:p.Gly241Arg | |
NM_000201.3:c.721G>A MANE Select | NP_000192.2:p.Gly241Arg |