HGVS | Genome Assembly |
---|---|
NC_000001.11:g.55039962T>A , CM000663.2:g.55039962T>A | GRCh38 |
NC_000001.10:g.55505635T>A , CM000663.1:g.55505635T>A | GRCh37 |
NC_000001.9:g.55278223T>A | NCBI36 |
NG_009061.1:g.5416T>A , LRG_275:g.5416T>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000673913.2:c.125T>A | ENSP00000501161.2:p.Val42Glu | |
ENST00000710286.1:c.482T>A | ENSP00000518176.1:p.Val161Glu | |
ENST00000673726.1:c.125T>A | ENSP00000501004.1:p.Val42Glu | |
ENST00000302118.5:c.125T>A MANE Select | ENSP00000303208.5:p.Val42Glu | |
NM_174936.3:c.125T>A , LRG_275t1:c.125T>A | NP_777596.2:p.Val42Glu | |
NM_174936.4:c.125T>A MANE Select | NP_777596.2:p.Val42Glu |