HGVS | Genome Assembly |
---|---|
NC_000020.11:g.37137939T= , CM000682.2:g.37137939T= | GRCh38 |
NC_000020.10:g.35766342T= , CM000682.1:g.35766342T= | GRCh37 |
NC_000020.9:g.35199756T= | NCBI36 |
NG_033795.1:g.46679A= | |
NG_033795.2:g.46639A= |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000343811.10:c.1520A= | ENSP00000513568.1:p.Gln507= | |
ENST00000400440.7:c.1520A= | ENSP00000513569.1:p.Gln507= | |
ENST00000421643.2:c.1415A= | ENSP00000513570.1:p.Gln472= | |
ENST00000422138.2:c.1262A= | ENSP00000400468.2:p.Gln421= | |
ENST00000343811.9:n.1589A= | ||
ENST00000343811.8:c.1600A= | ||
ENST00000400440.6:c.1612A= | ||
ENST00000400441.7:c.1520A= | ENSP00000383291.4:p.Gln507= | |
ENST00000417458.5:c.402A= | ||
ENST00000421643.1:c.1524A= |