HGVS | Genome Assembly |
---|---|
NC_000001.11:g.55043974T>G , CM000663.2:g.55043974T>G | GRCh38 |
NC_000001.10:g.55509647T>G , CM000663.1:g.55509647T>G | GRCh37 |
NC_000001.9:g.55282235T>G | NCBI36 |
NG_009061.1:g.9428T>G , LRG_275:g.9428T>G |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000673913.2:c.339T>G | ENSP00000501161.2:p.His113Gln | |
ENST00000710286.1:c.696T>G | ENSP00000518176.1:p.His232Gln | |
ENST00000673662.1:n.9T>G | ||
ENST00000673726.1:c.339T>G | ENSP00000501004.1:p.His113Gln | |
ENST00000673903.1:c.-37T>G | ENSP00000501257.1:n.-37T>G | |
ENST00000302118.5:c.339T>G MANE Select | ENSP00000303208.5:p.His113Gln | |
NM_174936.3:c.339T>G , LRG_275t1:c.339T>G | NP_777596.2:p.His113Gln | |
NR_110451.1:n.182+3571T>G | ||
NM_174936.4:c.339T>G MANE Select | NP_777596.2:p.His113Gln | |
NR_110451.2:n.182+3571T>G |