HGVS | Genome Assembly |
---|---|
NC_000001.11:g.55063569C>A , CM000663.2:g.55063569C>A | GRCh38 |
NC_000001.10:g.55529242C>A , CM000663.1:g.55529242C>A | GRCh37 |
NC_000001.9:g.55301830C>A | NCBI36 |
NG_009061.1:g.29023C>A , LRG_275:g.29023C>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000673913.2:c.*404C>A | ENSP00000501161.2:n.*404C>A | |
ENST00000710286.1:c.2421C>A | ENSP00000518176.1:p.Ser807= | |
ENST00000673903.1:c.1689C>A | ENSP00000501257.1:p.Ser563= | |
ENST00000302118.5:c.2064C>A MANE Select | ENSP00000303208.5:p.Ser688= | |
ENST00000490692.1:n.2610C>A | ||
NM_174936.3:c.2064C>A , LRG_275t1:c.2064C>A | NP_777596.2:p.Ser688= | |
NR_110451.1:n.1671C>A | ||
XM_011541193.1:c.1185C>A | XP_011539495.1:p.Ser395= | |
NM_174936.4:c.2064C>A MANE Select | NP_777596.2:p.Ser688= | |
NR_110451.2:n.1671C>A |