HGVS | Genome Assembly |
---|---|
NC_000017.11:g.41624233C>T , CM000679.2:g.41624233C>T | GRCh38 |
NC_000017.10:g.39780485C>T , CM000679.1:g.39780485C>T | GRCh37 |
NC_000017.9:g.37034011C>T | NCBI36 |
NG_008625.1:g.5398G>A | |
NG_009090.2:g.167480G>A , LRG_401:g.167480G>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000311208.13:c.277G>A MANE Select | ENSP00000308452.8:p.Asp93Asn | |
ENST00000311208.12:c.277G>A | ENSP00000308452.8:p.Asp93Asn | |
ENST00000463128.5:c.-312-27G>A | ENSP00000468672.1:n.-312-27G>A | |
ENST00000491673.1:n.343G>A | ||
ENST00000493253.5:n.64G>A | ||
ENST00000540235.5:c.71+1G>A | ENSP00000441751.2:n.71+1G>A | |
ENST00000577817.3:c.232G>A | ENSP00000467418.1:p.Asp78Asn | |
NM_000422.2:c.277G>A | NP_000413.1:p.Asp93Asn | |
NM_000422.3:c.277G>A MANE Select | NP_000413.1:p.Asp93Asn |