HGVS | Genome Assembly |
---|---|
NC_000020.11:g.37137937A>G , CM000682.2:g.37137937A>G | GRCh38 |
NC_000020.10:g.35766340A>G , CM000682.1:g.35766340A>G | GRCh37 |
NC_000020.9:g.35199754A>G | NCBI36 |
NG_033795.1:g.46681T>C | |
NG_033795.2:g.46641T>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000343811.10:c.1522T>C | ENSP00000513568.1:p.Leu508= | |
ENST00000400440.7:c.1522T>C | ENSP00000513569.1:p.Leu508= | |
ENST00000421643.2:c.1417T>C | ENSP00000513570.1:p.Leu473= | |
ENST00000422138.2:c.1264T>C | ENSP00000400468.2:p.Leu422= | |
ENST00000343811.9:n.1591T>C | ||
ENST00000343811.8:c.1602T>C | ||
ENST00000400440.6:c.1614T>C | ||
ENST00000400441.7:c.1522T>C | ENSP00000383291.4:p.Leu508= | |
ENST00000417458.5:c.404T>C | ||
ENST00000421643.1:c.1526T>C |