HGVS | Genome Assembly |
---|---|
NC_000019.10:g.45766461C>T , CM000681.2:g.45766461C>T | GRCh38 |
NC_000019.9:g.46269719C>T , CM000681.1:g.46269719C>T | GRCh37 |
NC_000019.8:g.50961559C>T | NCBI36 |
NG_012745.1:g.7779G>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000317578.7:c.1498G>A MANE Select | ENSP00000316842.4:p.Gly500Arg | |
ENST00000317578.6:c.1498G>A | ENSP00000316842.4:p.Gly500Arg | |
ENST00000560160.1:c.587-350G>A | ||
ENST00000560168.1:c.*686G>A | ENSP00000453189.2:n.*686G>A | |
ENST00000622857.1:c.16-499G>A | ENSP00000481365.1:n.16-499G>A | |
NM_175875.4:c.1498G>A | NP_787071.2:p.Gly500Arg | |
NM_175875.5:c.1498G>A MANE Select | NP_787071.3:p.Gly500Arg |