HGVS | Genome Assembly |
---|---|
NC_000020.11:g.37137938C>T , CM000682.2:g.37137938C>T | GRCh38 |
NC_000020.10:g.35766341C>T , CM000682.1:g.35766341C>T | GRCh37 |
NC_000020.9:g.35199755C>T | NCBI36 |
NG_033795.1:g.46680G>A | |
NG_033795.2:g.46640G>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000343811.10:c.1521G>A | ENSP00000513568.1:p.Gln507= | |
ENST00000400440.7:c.1521G>A | ENSP00000513569.1:p.Gln507= | |
ENST00000421643.2:c.1416G>A | ENSP00000513570.1:p.Gln472= | |
ENST00000422138.2:c.1263G>A | ENSP00000400468.2:p.Gln421= | |
ENST00000343811.9:n.1590G>A | ||
ENST00000343811.8:c.1601G>A | ||
ENST00000400440.6:c.1613G>A | ||
ENST00000400441.7:c.1521G>A | ENSP00000383291.4:p.Gln507= | |
ENST00000417458.5:c.403G>A | ||
ENST00000421643.1:c.1525G>A |