HGVS | Genome Assembly |
---|---|
NC_000001.11:g.55044026C>A , CM000663.2:g.55044026C>A | GRCh38 |
NC_000001.10:g.55509699C>A , CM000663.1:g.55509699C>A | GRCh37 |
NC_000001.9:g.55282287C>A | NCBI36 |
NG_009061.1:g.9480C>A , LRG_275:g.9480C>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000673913.2:c.391C>A | ENSP00000501161.2:p.Leu131Met | |
ENST00000710286.1:c.748C>A | ENSP00000518176.1:p.Leu250Met | |
ENST00000673662.1:n.61C>A | ||
ENST00000673726.1:c.391C>A | ENSP00000501004.1:p.Leu131Met | |
ENST00000673903.1:c.16C>A | ENSP00000501257.1:p.Leu6Met | |
ENST00000302118.5:c.391C>A MANE Select | ENSP00000303208.5:p.Leu131Met | |
NM_174936.3:c.391C>A , LRG_275t1:c.391C>A | NP_777596.2:p.Leu131Met | |
NR_110451.1:n.182+3623C>A | ||
NM_174936.4:c.391C>A MANE Select | NP_777596.2:p.Leu131Met | |
NR_110451.2:n.182+3623C>A |