HGVS | Genome Assembly |
---|---|
NC_000001.11:g.55043973A>T , CM000663.2:g.55043973A>T | GRCh38 |
NC_000001.10:g.55509646A>T , CM000663.1:g.55509646A>T | GRCh37 |
NC_000001.9:g.55282234A>T | NCBI36 |
NG_009061.1:g.9427A>T , LRG_275:g.9427A>T |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000673913.2:c.338A>T | ENSP00000501161.2:p.His113Leu | |
ENST00000710286.1:c.695A>T | ENSP00000518176.1:p.His232Leu | |
ENST00000673662.1:n.8A>T | ||
ENST00000673726.1:c.338A>T | ENSP00000501004.1:p.His113Leu | |
ENST00000673903.1:c.-38A>T | ENSP00000501257.1:n.-38A>T | |
ENST00000302118.5:c.338A>T MANE Select | ENSP00000303208.5:p.His113Leu | |
NM_174936.3:c.338A>T , LRG_275t1:c.338A>T | NP_777596.2:p.His113Leu | |
NR_110451.1:n.182+3570A>T | ||
NM_174936.4:c.338A>T MANE Select | NP_777596.2:p.His113Leu | |
NR_110451.2:n.182+3570A>T |