HGVS | Genome Assembly |
---|---|
NC_000007.14:g.94423008C>A , CM000669.2:g.94423008C>A | GRCh38 |
NC_000007.13:g.94052320C>A , CM000669.1:g.94052320C>A | GRCh37 |
NC_000007.12:g.93890256C>A | NCBI36 |
NG_007405.1:g.33448C>A , LRG_2:g.33448C>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000297268.11:c.2455C>A MANE Select | ENSP00000297268.6:p.Arg819Ser | |
ENST00000297268.10:c.2455C>A | ENSP00000297268.6:p.Arg819Ser | |
ENST00000481570.5:n.538C>A | ||
ENST00000497316.5:n.852C>A | ||
ENST00000620463.1:c.2449C>A | ENSP00000477719.1:p.Arg817Ser | |
NM_000089.3:c.2455C>A , LRG_2t1:c.2455C>A | NP_000080.2:p.Arg819Ser | |
NM_000089.4:c.2455C>A MANE Select | NP_000080.2:p.Arg819Ser |