HGVS | Genome Assembly |
---|---|
NC_000001.11:g.55043985G>T , CM000663.2:g.55043985G>T | GRCh38 |
NC_000001.10:g.55509658G>T , CM000663.1:g.55509658G>T | GRCh37 |
NC_000001.9:g.55282246G>T | NCBI36 |
NG_009061.1:g.9439G>T , LRG_275:g.9439G>T |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000673913.2:c.350G>T | ENSP00000501161.2:p.Gly117Val | |
ENST00000710286.1:c.707G>T | ENSP00000518176.1:p.Gly236Val | |
ENST00000673662.1:n.20G>T | ||
ENST00000673726.1:c.350G>T | ENSP00000501004.1:p.Gly117Val | |
ENST00000673903.1:c.-26G>T | ENSP00000501257.1:n.-26G>T | |
ENST00000302118.5:c.350G>T MANE Select | ENSP00000303208.5:p.Gly117Val | |
NM_174936.3:c.350G>T , LRG_275t1:c.350G>T | NP_777596.2:p.Gly117Val | |
NR_110451.1:n.182+3582G>T | ||
NM_174936.4:c.350G>T MANE Select | NP_777596.2:p.Gly117Val | |
NR_110451.2:n.182+3582G>T |