HGVS | Genome Assembly |
---|---|
NC_000023.11:g.154966473T>G , CM000685.2:g.154966473T>G | GRCh38 |
NC_000023.10:g.154194748T>G , CM000685.1:g.154194748T>G | GRCh37 |
NC_000023.9:g.153847942T>G | NCBI36 |
NG_011403.1:g.61251A>C | |
NG_011403.2:g.61251A>C |
HGVS | Amino-acid change | |
---|---|---|
ENST00000360256.9:c.1224A>C MANE Select | ENSP00000353393.4:p.Glu408Asp | |
ENST00000647125.1:c.*1100A>C | ENSP00000496062.1:n.*1100A>C | |
ENST00000360256.8:c.1224A>C | ENSP00000353393.4:p.Glu408Asp | |
ENST00000483822.2:n.44A>C | ||
NM_000132.3:c.1224A>C | NP_000123.1:p.Glu408Asp | |
XM_011531126.1:c.1119A>C | XP_011529428.1:p.Glu373Asp | |
NM_000132.4:c.1224A>C MANE Select | NP_000123.1:p.Glu408Asp |