HGVS | Genome Assembly |
---|---|
NC_000020.11:g.37137941G>T , CM000682.2:g.37137941G>T | GRCh38 |
NC_000020.10:g.35766344G>T , CM000682.1:g.35766344G>T | GRCh37 |
NC_000020.9:g.35199758G>T | NCBI36 |
NG_033795.1:g.46677C>A | |
NG_033795.2:g.46637C>A |
HGVS | Amino-acid change | |
---|---|---|
ENST00000343811.10:c.1518C>A | ENSP00000513568.1:p.Ala506= | |
ENST00000400440.7:c.1518C>A | ENSP00000513569.1:p.Ala506= | |
ENST00000421643.2:c.1413C>A | ENSP00000513570.1:p.Ala471= | |
ENST00000422138.2:c.1260C>A | ENSP00000400468.2:p.Ala420= | |
ENST00000343811.9:n.1587C>A | ||
ENST00000343811.8:c.1598C>A | ||
ENST00000400440.6:c.1610C>A | ||
ENST00000400441.7:c.1518C>A | ENSP00000383291.4:p.Ala506= | |
ENST00000417458.5:c.400C>A | ||
ENST00000421643.1:c.1522C>A |