HGVS | Genome Assembly |
---|---|
NC_000002.12:g.218812578C= , CM000664.2:g.218812578C= | GRCh38 |
NC_000002.11:g.219677301C= , CM000664.1:g.219677301C= | GRCh37 |
NC_000002.10:g.219385545C= | NCBI36 |
NG_007959.1:g.35830C= |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000258415.9:c.673C= MANE Select | ENSP00000258415.4:p.Arg225= | |
ENST00000258415.8:c.673C= | ENSP00000258415.4:p.Arg225= | |
ENST00000411688.1:c.391C= | ENSP00000392671.1:p.Arg131= | |
ENST00000445971.1:c.*134C= | ENSP00000404945.1:n.*134C= | |
ENST00000466602.1:n.621C= | ||
ENST00000494263.5:n.1107C= | ||
NM_000784.3:c.673C= | NP_000775.1:p.Arg225= | |
XM_017003488.2:c.253C= | XP_016858977.1:p.Arg85= | |
NM_000784.4:c.673C= MANE Select | NP_000775.1:p.Arg225= |