HGVS | Genome Assembly |
---|---|
NC_000001.11:g.55039956A>C , CM000663.2:g.55039956A>C | GRCh38 |
NC_000001.10:g.55505629A>C , CM000663.1:g.55505629A>C | GRCh37 |
NC_000001.9:g.55278217A>C | NCBI36 |
NG_009061.1:g.5410A>C , LRG_275:g.5410A>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000673913.2:c.119A>C | ENSP00000501161.2:p.Glu40Ala | |
ENST00000710286.1:c.476A>C | ENSP00000518176.1:p.Glu159Ala | |
ENST00000673726.1:c.119A>C | ENSP00000501004.1:p.Glu40Ala | |
ENST00000302118.5:c.119A>C MANE Select | ENSP00000303208.5:p.Glu40Ala | |
NM_174936.3:c.119A>C , LRG_275t1:c.119A>C | NP_777596.2:p.Glu40Ala | |
NM_174936.4:c.119A>C MANE Select | NP_777596.2:p.Glu40Ala |