HGVS | Genome Assembly |
---|---|
NC_000010.11:g.94988929G>A , CM000672.2:g.94988929G>A | GRCh38 |
NC_000010.10:g.96748686G>A , CM000672.1:g.96748686G>A | GRCh37 |
NC_000010.9:g.96738676G>A | NCBI36 |
NG_008385.1:g.55272G>A | |
NG_008385.2:g.55772G>A |
HGVS | Amino-acid change | |
---|---|---|
ENST00000260682.8:c.1374G>A MANE Select | ENSP00000260682.6:p.Leu458= | |
ENST00000643112.1:c.*383G>A | ENSP00000496202.1:n.*383G>A | |
ENST00000260682.6:c.1374G>A | ENSP00000260682.6:p.Leu458= | |
NM_000771.3:c.1374G>A | NP_000762.2:p.Leu458= | |
NM_000771.4:c.1374G>A MANE Select | NP_000762.2:p.Leu458= |