HGVS | Genome Assembly |
---|---|
NC_000016.10:g.176784G>A , CM000678.2:g.176784G>A | GRCh38 |
NC_000016.9:g.226783G>A , CM000678.1:g.226783G>A | GRCh37 |
NC_000016.8:g.166783G>A | NCBI36 |
NG_000006.1:g.37647G>A | |
NG_059186.1:g.5134G>A |
HGVS | Amino-acid change | |
---|---|---|
ENST00000320868.9:c.68G>A MANE Select | ENSP00000322421.5:p.Gly23Asp | |
ENST00000397797.1:c.-2+22G>A | ENSP00000380899.1:n.-2+22G>A | |
ENST00000472694.1:n.87G>A | ||
ENST00000487791.1:n.37G>A | ||
NM_000558.4:c.68G>A | NP_000549.1:p.Gly23Asp | |
NM_000558.5:c.68G>A MANE Select | NP_000549.1:p.Gly23Asp |