HGVS | Genome Assembly |
---|---|
NC_000019.10:g.45767055C>A , CM000681.2:g.45767055C>A | GRCh38 |
NC_000019.9:g.46270313C>A , CM000681.1:g.46270313C>A | GRCh37 |
NC_000019.8:g.50962153C>A | NCBI36 |
NG_012745.1:g.7185G>T |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000317578.7:c.904G>T MANE Select | ENSP00000316842.4:p.Gly302Cys | |
ENST00000317578.6:c.904G>T | ENSP00000316842.4:p.Gly302Cys | |
ENST00000560160.1:c.587-944G>T | ||
ENST00000560168.1:c.*92G>T | ENSP00000453189.2:n.*92G>T | |
ENST00000622857.1:c.16-1093G>T | ENSP00000481365.1:n.16-1093G>T | |
NM_175875.4:c.904G>T | NP_787071.2:p.Gly302Cys | |
NM_175875.5:c.904G>T MANE Select | NP_787071.3:p.Gly302Cys |