HGVS | Genome Assembly |
---|---|
NC_000020.11:g.37137935T>C , CM000682.2:g.37137935T>C | GRCh38 |
NC_000020.10:g.35766338T>C , CM000682.1:g.35766338T>C | GRCh37 |
NC_000020.9:g.35199752T>C | NCBI36 |
NG_033795.1:g.46683A>G | |
NG_033795.2:g.46643A>G |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000343811.10:c.1524A>G | ENSP00000513568.1:p.Leu508= | |
ENST00000400440.7:c.1524A>G | ENSP00000513569.1:p.Leu508= | |
ENST00000421643.2:c.1419A>G | ENSP00000513570.1:p.Leu473= | |
ENST00000422138.2:c.1266A>G | ENSP00000400468.2:p.Leu422= | |
ENST00000343811.9:n.1593A>G | ||
ENST00000343811.8:c.1604A>G | ||
ENST00000400440.6:c.1616A>G | ||
ENST00000400441.7:c.1524A>G | ENSP00000383291.4:p.Leu508= | |
ENST00000417458.5:c.406A>G | ||
ENST00000421643.1:c.1528A>G |