HGVS | Genome Assembly |
---|---|
NC_000003.12:g.180659708T>G , CM000665.2:g.180659708T>G | GRCh38 |
NC_000003.11:g.180377496T>G , CM000665.1:g.180377496T>G | GRCh37 |
NC_000003.10:g.181860190T>G | NCBI36 |
NG_029581.1:g.24788A>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000476379.6:c.578A>C MANE Select | ENSP00000417960.2:p.Asp193Ala | |
ENST00000650641.1:n.657A>C | ||
ENST00000650889.1:n.750A>C | ||
ENST00000651046.1:c.578A>C | ENSP00000499175.1:p.Asp193Ala | |
ENST00000651818.1:n.720A>C | ||
ENST00000652024.1:n.669A>C | ||
ENST00000652408.1:n.715A>C | ||
ENST00000442201.6:c.578A>C | ENSP00000405708.2:p.Asp193Ala | |
ENST00000476379.5:c.578A>C | ENSP00000417960.1:p.Asp193Ala | |
NM_181426.1:c.578A>C | NP_852091.1:p.Asp193Ala | |
NM_181426.2:c.578A>C MANE Select | NP_852091.1:p.Asp193Ala |