HGVS | Genome Assembly |
---|---|
NC_000001.11:g.55043936C>G , CM000663.2:g.55043936C>G | GRCh38 |
NC_000001.10:g.55509609C>G , CM000663.1:g.55509609C>G | GRCh37 |
NC_000001.9:g.55282197C>G | NCBI36 |
NG_009061.1:g.9390C>G , LRG_275:g.9390C>G |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000673913.2:c.301C>G | ENSP00000501161.2:p.Gln101Glu | |
ENST00000710286.1:c.658C>G | ENSP00000518176.1:p.Gln220Glu | |
ENST00000673726.1:c.301C>G | ENSP00000501004.1:p.Gln101Glu | |
ENST00000673903.1:c.-75C>G | ENSP00000501257.1:n.-75C>G | |
ENST00000302118.5:c.301C>G MANE Select | ENSP00000303208.5:p.Gln101Glu | |
NM_174936.3:c.301C>G , LRG_275t1:c.301C>G | NP_777596.2:p.Gln101Glu | |
NR_110451.1:n.182+3533C>G | ||
NM_174936.4:c.301C>G MANE Select | NP_777596.2:p.Gln101Glu | |
NR_110451.2:n.182+3533C>G |