HGVS | Genome Assembly |
---|---|
NC_000015.10:g.73367547G>A , CM000677.2:g.73367547G>A | GRCh38 |
NC_000015.9:g.73659888G>A , CM000677.1:g.73659888G>A | GRCh37 |
NC_000015.8:g.71446941G>A | NCBI36 |
NG_009063.1:g.6718C>T |
HGVS | Amino-acid change | |
---|---|---|
ENST00000261917.4:c.724C>T MANE Select | ENSP00000261917.3:p.Arg242Cys | |
ENST00000261917.3:c.724C>T | ENSP00000261917.3:p.Arg242Cys | |
NM_005477.2:c.724C>T | NP_005468.1:p.Arg242Cys | |
NM_005477.3:c.724C>T MANE Select | NP_005468.1:p.Arg242Cys |