HGVS | Genome Assembly |
---|---|
NC_000019.10:g.45766404T>A , CM000681.2:g.45766404T>A | GRCh38 |
NC_000019.9:g.46269662T>A , CM000681.1:g.46269662T>A | GRCh37 |
NC_000019.8:g.50961502T>A | NCBI36 |
NG_012745.1:g.7836A>T |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000317578.7:c.1555A>T MANE Select | ENSP00000316842.4:p.Ile519Phe | |
ENST00000317578.6:c.1555A>T | ENSP00000316842.4:p.Ile519Phe | |
ENST00000560160.1:c.587-293A>T | ||
ENST00000560168.1:c.*743A>T | ENSP00000453189.2:n.*743A>T | |
ENST00000622857.1:c.16-442A>T | ENSP00000481365.1:n.16-442A>T | |
NM_175875.4:c.1555A>T | NP_787071.2:p.Ile519Phe | |
NM_175875.5:c.1555A>T MANE Select | NP_787071.3:p.Ile519Phe |