HGVS | Genome Assembly |
---|---|
NC_000017.11:g.41624230G>T , CM000679.2:g.41624230G>T | GRCh38 |
NC_000017.10:g.39780482G>T , CM000679.1:g.39780482G>T | GRCh37 |
NC_000017.9:g.37034008G>T | NCBI36 |
NG_008625.1:g.5401C>A | |
NG_009090.2:g.167483C>A , LRG_401:g.167483C>A |
HGVS | Amino-acid change | |
---|---|---|
ENST00000311208.13:c.280C>A MANE Select | ENSP00000308452.8:p.Arg94Ser | |
ENST00000311208.12:c.280C>A | ENSP00000308452.8:p.Arg94Ser | |
ENST00000463128.5:c.-312-24C>A | ENSP00000468672.1:n.-312-24C>A | |
ENST00000491673.1:n.346C>A | ||
ENST00000493253.5:n.67C>A | ||
ENST00000540235.5:c.71+4C>A | ENSP00000441751.2:n.71+4C>A | |
ENST00000577817.3:c.235C>A | ENSP00000467418.1:p.Arg79Ser | |
NM_000422.2:c.280C>A | NP_000413.1:p.Arg94Ser | |
NM_000422.3:c.280C>A MANE Select | NP_000413.1:p.Arg94Ser |