HGVS | Genome Assembly |
---|---|
NC_000019.10:g.10115496G>A , CM000681.2:g.10115496G>A | GRCh38 |
NC_000019.9:g.10226172G>A , CM000681.1:g.10226172G>A | GRCh37 |
NC_000019.8:g.10087172G>A | NCBI36 |
NG_047007.1:g.8976G>A | |
NG_051197.1:g.9429C>T |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000253108.9:c.930C>T MANE Select | ENSP00000253108.3:p.Leu310= | |
ENST00000253108.8:c.930C>T | ENSP00000253108.3:p.Leu310= | |
ENST00000590158.1:n.949C>T | ||
ENST00000593054.5:c.324C>T | ENSP00000467187.1:p.Leu108= | |
NM_003755.3:c.930C>T | NP_003746.2:p.Leu310= | |
NM_003755.4:c.930C>T | NP_003746.2:p.Leu310= | |
NM_003755.5:c.930C>T MANE Select | NP_003746.2:p.Leu310= |