HGVS | Genome Assembly |
---|---|
NC_000012.12:g.107001317T>A , CM000674.2:g.107001317T>A | GRCh38 |
NC_000012.11:g.107395095T>A , CM000674.1:g.107395095T>A | GRCh37 |
NC_000012.10:g.105919225T>A | NCBI36 |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000008527.10:c.647A>T MANE Select | ENSP00000008527.5:p.Glu216Val | |
ENST00000008527.9:c.647A>T | ENSP00000008527.5:p.Glu216Val | |
ENST00000546722.1:n.140A>T | ||
ENST00000552790.5:n.1206A>T | ||
NM_004075.4:c.647A>T | NP_004066.1:p.Glu216Val | |
XM_011537939.1:c.563A>T | XP_011536241.1:p.Glu188Val | |
XM_017018832.2:c.563A>T | XP_016874321.1:p.Glu188Val | |
XM_024448844.1:c.647A>T | XP_024304612.1:p.Glu216Val | |
XM_024448845.1:c.563A>T | XP_024304613.1:p.Glu188Val | |
NM_004075.5:c.647A>T MANE Select | NP_004066.1:p.Glu216Val |