HGVS | Genome Assembly |
---|---|
NC_000012.12:g.52519906C>G , CM000674.2:g.52519906C>G | GRCh38 |
NC_000012.11:g.52913690C>G , CM000674.1:g.52913690C>G | GRCh37 |
NC_000012.10:g.51199957C>G | NCBI36 |
NG_008297.1:g.5554G>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000252242.9:c.391G>C MANE Select | ENSP00000252242.4:p.Gly131Arg | |
ENST00000252242.8:c.391G>C | ENSP00000252242.4:p.Gly131Arg | |
ENST00000546577.1:c.391G>C | ENSP00000449651.1:p.Gly131Arg | |
ENST00000549420.1:c.61G>C | ENSP00000447209.1:p.Gly21Arg | |
ENST00000551275.1:c.286G>C | ENSP00000448041.1:p.Gly96Arg | |
ENST00000552629.5:n.489G>C | ||
NM_000424.3:c.391G>C | NP_000415.2:p.Gly131Arg | |
NM_000424.4:c.391G>C MANE Select | NP_000415.2:p.Gly131Arg |