HGVS | Genome Assembly |
---|---|
NC_000020.11:g.38360727A>G , CM000682.2:g.38360727A>G | GRCh38 |
NG_034239.1:g.19317A>G |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000217407.3:c.612A>G MANE Select | ENSP00000217407.2:p.Ser204= | |
ENST00000217407.2:c.612A>G | ENSP00000217407.2:p.Ser204= | |
NM_004139.4:c.612A>G | NP_004130.2:p.Ser204= | |
NM_004139.5:c.612A>G MANE Select | NP_004130.2:p.Ser204= |