HGVS | Genome Assembly |
---|---|
NC_000019.10:g.45766709A= , CM000681.2:g.45766709A= | GRCh38 |
NC_000019.9:g.46269967A= , CM000681.1:g.46269967A= | GRCh37 |
NC_000019.8:g.50961807A= | NCBI36 |
NG_012745.1:g.7531T= |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000317578.7:c.1250T= MANE Select | ENSP00000316842.4:p.Leu417= | |
ENST00000317578.6:c.1250T= | ENSP00000316842.4:p.Leu417= | |
ENST00000560160.1:c.587-598T= | ||
ENST00000560168.1:c.*438T= | ENSP00000453189.2:n.*438T= | |
ENST00000622857.1:c.16-747T= | ENSP00000481365.1:n.16-747T= | |
NM_175875.4:c.1250T= | NP_787071.2:p.Leu417= | |
NM_175875.5:c.1250T= MANE Select | NP_787071.3:p.Leu417= |