HGVS | Genome Assembly |
---|---|
NC_000001.11:g.55043987C>A , CM000663.2:g.55043987C>A | GRCh38 |
NC_000001.10:g.55509660C>A , CM000663.1:g.55509660C>A | GRCh37 |
NC_000001.9:g.55282248C>A | NCBI36 |
NG_009061.1:g.9441C>A , LRG_275:g.9441C>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000673913.2:c.352C>A | ENSP00000501161.2:p.Leu118Ile | |
ENST00000710286.1:c.709C>A | ENSP00000518176.1:p.Leu237Ile | |
ENST00000673662.1:n.22C>A | ||
ENST00000673726.1:c.352C>A | ENSP00000501004.1:p.Leu118Ile | |
ENST00000673903.1:c.-24C>A | ENSP00000501257.1:n.-24C>A | |
ENST00000302118.5:c.352C>A MANE Select | ENSP00000303208.5:p.Leu118Ile | |
NM_174936.3:c.352C>A , LRG_275t1:c.352C>A | NP_777596.2:p.Leu118Ile | |
NR_110451.1:n.182+3584C>A | ||
NM_174936.4:c.352C>A MANE Select | NP_777596.2:p.Leu118Ile | |
NR_110451.2:n.182+3584C>A |