HGVS | Genome Assembly |
---|---|
NC_000001.11:g.55044024T>A , CM000663.2:g.55044024T>A | GRCh38 |
NC_000001.10:g.55509697T>A , CM000663.1:g.55509697T>A | GRCh37 |
NC_000001.9:g.55282285T>A | NCBI36 |
NG_009061.1:g.9478T>A , LRG_275:g.9478T>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000673913.2:c.389T>A | ENSP00000501161.2:p.Leu130Gln | |
ENST00000710286.1:c.746T>A | ENSP00000518176.1:p.Leu249Gln | |
ENST00000673662.1:n.59T>A | ||
ENST00000673726.1:c.389T>A | ENSP00000501004.1:p.Leu130Gln | |
ENST00000673903.1:c.14T>A | ENSP00000501257.1:p.Leu5Gln | |
ENST00000302118.5:c.389T>A MANE Select | ENSP00000303208.5:p.Leu130Gln | |
NM_174936.3:c.389T>A , LRG_275t1:c.389T>A | NP_777596.2:p.Leu130Gln | |
NR_110451.1:n.182+3621T>A | ||
NM_174936.4:c.389T>A MANE Select | NP_777596.2:p.Leu130Gln | |
NR_110451.2:n.182+3621T>A |