HGVS | Genome Assembly |
---|---|
NC_000019.10:g.45767012G>A , CM000681.2:g.45767012G>A | GRCh38 |
NC_000019.9:g.46270270G>A , CM000681.1:g.46270270G>A | GRCh37 |
NC_000019.8:g.50962110G>A | NCBI36 |
NG_012745.1:g.7228C>T |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000317578.7:c.947C>T MANE Select | ENSP00000316842.4:p.Pro316Leu | |
ENST00000317578.6:c.947C>T | ENSP00000316842.4:p.Pro316Leu | |
ENST00000560160.1:c.587-901C>T | ||
ENST00000560168.1:c.*135C>T | ENSP00000453189.2:n.*135C>T | |
ENST00000622857.1:c.16-1050C>T | ENSP00000481365.1:n.16-1050C>T | |
NM_175875.4:c.947C>T | NP_787071.2:p.Pro316Leu | |
NM_175875.5:c.947C>T MANE Select | NP_787071.3:p.Pro316Leu |