HGVS | Genome Assembly |
---|---|
NC_000019.10:g.43552164C>T , CM000681.2:g.43552164C>T | GRCh38 |
NC_000019.9:g.44056316C>T , CM000681.1:g.44056316C>T | GRCh37 |
NC_000019.8:g.48748156C>T | NCBI36 |
NG_033799.1:g.28415G>A , LRG_784:g.28415G>A |
HGVS | Amino-acid change | |
---|---|---|
ENST00000262887.10:c.935G>A MANE Select | ENSP00000262887.5:p.Gly312Asp | |
ENST00000262887.9:c.935G>A | ENSP00000262887.4:p.Gly312Asp | |
ENST00000543982.5:c.842G>A | ENSP00000443671.1:p.Gly281Asp | |
ENST00000595789.5:n.1056G>A | ||
ENST00000597811.5:c.545G>A | ||
ENST00000598422.1:n.615G>A | ||
NM_006297.2:c.935G>A , LRG_784t1:c.935G>A | NP_006288.2:p.Gly312Asp | |
NM_006297.3:c.935G>A MANE Select | NP_006288.2:p.Gly312Asp |