HGVS | Genome Assembly |
---|---|
NC_000020.11:g.37137947G>T , CM000682.2:g.37137947G>T | GRCh38 |
NC_000020.10:g.35766350G>T , CM000682.1:g.35766350G>T | GRCh37 |
NC_000020.9:g.35199764G>T | NCBI36 |
NG_033795.1:g.46671C>A | |
NG_033795.2:g.46631C>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000343811.10:c.1512C>A | ENSP00000513568.1:p.Ile504= | |
ENST00000400440.7:c.1512C>A | ENSP00000513569.1:p.Ile504= | |
ENST00000421643.2:c.1407C>A | ENSP00000513570.1:p.Ile469= | |
ENST00000422138.2:c.1254C>A | ENSP00000400468.2:p.Ile418= | |
ENST00000343811.9:n.1581C>A | ||
ENST00000343811.8:c.1592C>A | ||
ENST00000400440.6:c.1604C>A | ||
ENST00000400441.7:c.1512C>A | ENSP00000383291.4:p.Ile504= | |
ENST00000417458.5:c.394C>A | ||
ENST00000421643.1:c.1516C>A |