HGVS | Genome Assembly |
---|---|
NC_000017.11:g.41624294G>T , CM000679.2:g.41624294G>T | GRCh38 |
NC_000017.10:g.39780546G>T , CM000679.1:g.39780546G>T | GRCh37 |
NC_000017.9:g.37034072G>T | NCBI36 |
NG_008625.1:g.5337C>A | |
NG_009090.2:g.167419C>A , LRG_401:g.167419C>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000311208.13:c.216C>A MANE Select | ENSP00000308452.8:p.Ser72Arg | |
ENST00000311208.12:c.216C>A | ENSP00000308452.8:p.Ser72Arg | |
ENST00000463128.5:c.-312-88C>A | ENSP00000468672.1:n.-312-88C>A | |
ENST00000491673.1:n.282C>A | ||
ENST00000493253.5:n.3C>A | ||
ENST00000540235.5:c.11C>A | ENSP00000441751.2:p.Ala4Asp | |
ENST00000577817.3:c.171C>A | ENSP00000467418.1:p.Ser57Arg | |
NM_000422.2:c.216C>A | NP_000413.1:p.Ser72Arg | |
NM_000422.3:c.216C>A MANE Select | NP_000413.1:p.Ser72Arg |