HGVS | Genome Assembly |
---|---|
NC_000001.11:g.55040042A>G , CM000663.2:g.55040042A>G | GRCh38 |
NC_000001.10:g.55505715A>G , CM000663.1:g.55505715A>G | GRCh37 |
NC_000001.9:g.55278303A>G | NCBI36 |
NG_009061.1:g.5496A>G , LRG_275:g.5496A>G |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000673913.2:c.205A>G | ENSP00000501161.2:p.Lys69Glu | |
ENST00000710286.1:c.562A>G | ENSP00000518176.1:p.Lys188Glu | |
ENST00000673726.1:c.205A>G | ENSP00000501004.1:p.Lys69Glu | |
ENST00000302118.5:c.205A>G MANE Select | ENSP00000303208.5:p.Lys69Glu | |
NM_174936.3:c.205A>G , LRG_275t1:c.205A>G | NP_777596.2:p.Lys69Glu | |
NM_174936.4:c.205A>G MANE Select | NP_777596.2:p.Lys69Glu |