HGVS | Genome Assembly |
---|---|
NC_000001.11:g.55063561C>G , CM000663.2:g.55063561C>G | GRCh38 |
NC_000001.10:g.55529234C>G , CM000663.1:g.55529234C>G | GRCh37 |
NC_000001.9:g.55301822C>G | NCBI36 |
NG_009061.1:g.29015C>G , LRG_275:g.29015C>G |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000673913.2:c.*396C>G | ENSP00000501161.2:n.*396C>G | |
ENST00000710286.1:c.2413C>G | ENSP00000518176.1:p.Gln805Glu | |
ENST00000673903.1:c.1681C>G | ENSP00000501257.1:p.Gln561Glu | |
ENST00000302118.5:c.2056C>G MANE Select | ENSP00000303208.5:p.Gln686Glu | |
ENST00000490692.1:n.2602C>G | ||
NM_174936.3:c.2056C>G , LRG_275t1:c.2056C>G | NP_777596.2:p.Gln686Glu | |
NR_110451.1:n.1663C>G | ||
XM_011541193.1:c.1177C>G | XP_011539495.1:p.Gln393Glu | |
NM_174936.4:c.2056C>G MANE Select | NP_777596.2:p.Gln686Glu | |
NR_110451.2:n.1663C>G |