HGVS | Genome Assembly |
---|---|
NC_000019.10:g.45766534C= , CM000681.2:g.45766534C= | GRCh38 |
NC_000019.9:g.46269792C= , CM000681.1:g.46269792C= | GRCh37 |
NC_000019.8:g.50961632C= | NCBI36 |
NG_012745.1:g.7706G= |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000317578.7:c.1425G= MANE Select | ENSP00000316842.4:p.Leu475= | |
ENST00000317578.6:c.1425G= | ENSP00000316842.4:p.Leu475= | |
ENST00000560160.1:c.587-423G= | ||
ENST00000560168.1:c.*613G= | ENSP00000453189.2:n.*613G= | |
ENST00000622857.1:c.16-572G= | ENSP00000481365.1:n.16-572G= | |
NM_175875.4:c.1425G= | NP_787071.2:p.Leu475= | |
NM_175875.5:c.1425G= MANE Select | NP_787071.3:p.Leu475= |