HGVS | Genome Assembly |
---|---|
NC_000019.10:g.45766493T>A , CM000681.2:g.45766493T>A | GRCh38 |
NC_000019.9:g.46269751T>A , CM000681.1:g.46269751T>A | GRCh37 |
NC_000019.8:g.50961591T>A | NCBI36 |
NG_012745.1:g.7747A>T |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000317578.7:c.1466A>T MANE Select | ENSP00000316842.4:p.Gln489Leu | |
ENST00000317578.6:c.1466A>T | ENSP00000316842.4:p.Gln489Leu | |
ENST00000560160.1:c.587-382A>T | ||
ENST00000560168.1:c.*654A>T | ENSP00000453189.2:n.*654A>T | |
ENST00000622857.1:c.16-531A>T | ENSP00000481365.1:n.16-531A>T | |
NM_175875.4:c.1466A>T | NP_787071.2:p.Gln489Leu | |
NM_175875.5:c.1466A>T MANE Select | NP_787071.3:p.Gln489Leu |