HGVS | Genome Assembly |
---|---|
NC_000019.10:g.43552274C>A , CM000681.2:g.43552274C>A | GRCh38 |
NC_000019.9:g.44056426C>A , CM000681.1:g.44056426C>A | GRCh37 |
NC_000019.8:g.48748266C>A | NCBI36 |
NG_033799.1:g.28305G>T , LRG_784:g.28305G>T |
HGVS | Amino-acid change | |
---|---|---|
ENST00000262887.10:c.825G>T MANE Select | ENSP00000262887.5:p.Leu275Phe | |
ENST00000262887.9:c.825G>T | ENSP00000262887.4:p.Leu275Phe | |
ENST00000543982.5:c.732G>T | ENSP00000443671.1:p.Leu244Phe | |
ENST00000595789.5:n.946G>T | ||
ENST00000597811.5:c.435G>T | ||
ENST00000598165.5:c.846G>T | ENSP00000470045.1:p.Leu282Phe | |
ENST00000598422.1:n.505G>T | ||
NM_006297.2:c.825G>T , LRG_784t1:c.825G>T | NP_006288.2:p.Leu275Phe | |
NM_006297.3:c.825G>T MANE Select | NP_006288.2:p.Leu275Phe |