HGVS | Genome Assembly |
---|---|
NC_000017.11:g.41623779A>T , CM000679.2:g.41623779A>T | GRCh38 |
NC_000017.10:g.39780031A>T , CM000679.1:g.39780031A>T | GRCh37 |
NC_000017.9:g.37033557A>T | NCBI36 |
NG_008625.1:g.5852T>A | |
NG_009090.2:g.167934T>A , LRG_401:g.167934T>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000311208.13:c.432+299T>A MANE Select | ENSP00000308452.8:n.432+299T>A | |
ENST00000311208.12:c.432+299T>A | ENSP00000308452.8:n.432+299T>A | |
ENST00000463128.5:c.-184+299T>A | ENSP00000468672.1:n.-184+299T>A | |
ENST00000491673.1:n.498+299T>A | ||
ENST00000493253.5:n.219+299T>A | ||
ENST00000540235.5:c.183+299T>A | ENSP00000441751.2:n.183+299T>A | |
ENST00000577817.3:c.387+299T>A | ENSP00000467418.1:n.387+299T>A | |
NM_000422.2:c.432+299T>A | NP_000413.1:n.432+299T>A | |
NM_000422.3:c.432+299T>A MANE Select | NP_000413.1:n.432+299T>A |