HGVS | Genome Assembly |
---|---|
NC_000011.10:g.47343261T>C , CM000673.2:g.47343261T>C | GRCh38 |
NC_000011.9:g.47364812T>C , CM000673.1:g.47364812T>C | GRCh37 |
NC_000011.8:g.47321388T>C | NCBI36 |
NG_007667.1:g.14442A>G , LRG_386:g.14442A>G |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000545968.6:c.1225A>G MANE Select | ENSP00000442795.1:p.Lys409Glu | |
ENST00000256993.8:c.1224-113A>G | ENSP00000256993.5:n.1224-113A>G | |
ENST00000399249.6:c.1225A>G | ENSP00000382193.2:p.Lys409Glu | |
ENST00000544791.1:c.1225A>G | ENSP00000444259.1:p.Lys409Glu | |
ENST00000545968.5:c.1225A>G | ENSP00000442795.1:p.Lys409Glu | |
NM_000256.3:c.1225A>G , LRG_386t1:c.1225A>G MANE Select | NP_000247.2:p.Lys409Glu | |
XM_011520117.1:c.1207A>G | XP_011518419.1:p.Lys403Glu | |
XM_011520118.1:c.1225A>G | XP_011518420.1:p.Lys409Glu |