HGVS | Genome Assembly |
---|---|
NC_000001.11:g.67259176C>G , CM000663.2:g.67259176C>G | GRCh38 |
NC_000001.10:g.67724859C>G , CM000663.1:g.67724859C>G | GRCh37 |
NC_000001.9:g.67497447C>G | NCBI36 |
NG_011498.1:g.97691C>G |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000347310.10:c.*48C>G MANE Select | ENSP00000321345.5:n.*48C>G | |
ENST00000347310.9:c.*48C>G | ENSP00000321345.5:n.*48C>G | |
ENST00000395227.2:c.*48C>G | ENSP00000378652.2:n.*48C>G | |
ENST00000425614.3:c.*48C>G | ENSP00000387640.2:n.*48C>G | |
ENST00000473881.2:c.*764C>G | ENSP00000486667.1:n.*764C>G | |
NM_144701.2:c.*48C>G | NP_653302.2:n.*48C>G | |
XM_005270516.2:c.*48C>G | XP_005270573.1:n.*48C>G | |
XM_011540789.1:c.*48C>G | XP_011539091.1:n.*48C>G | |
XM_011540790.1:c.*48C>G | XP_011539092.1:n.*48C>G | |
XM_011540791.1:c.*48C>G | XP_011539093.1:n.*48C>G | |
XM_011540790.3:c.*48C>G | XP_011539092.1:n.*48C>G | |
XM_011540791.3:c.*48C>G | XP_011539093.1:n.*48C>G | |
NM_144701.3:c.*48C>G MANE Select | NP_653302.2:n.*48C>G |