HGVS | Genome Assembly |
---|---|
NC_000002.12:g.232526549G>A , CM000664.2:g.232526549G>A | GRCh38 |
NC_000002.11:g.233391259G>A , CM000664.1:g.233391259G>A | GRCh37 |
NC_000002.10:g.233099503G>A | NCBI36 |
NG_008028.1:g.5338G>A | |
NG_031969.1:g.11087G>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000258385.8:c.73G>A MANE Select | ENSP00000258385.3:p.Glu25Lys | |
ENST00000258385.7:c.73G>A | ENSP00000258385.3:p.Glu25Lys | |
ENST00000412233.5:c.73G>A | ENSP00000398143.1:p.Glu25Lys | |
ENST00000441621.6:c.73G>A | ENSP00000408819.2:p.Glu25Lys | |
ENST00000446616.1:c.73G>A | ENSP00000410801.1:p.Glu25Lys | |
ENST00000449596.5:c.73G>A | ENSP00000404950.1:p.Glu25Lys | |
ENST00000543200.5:c.73G>A | ENSP00000438380.1:p.Glu25Lys | |
NM_000751.2:c.73G>A | NP_000742.1:p.Glu25Lys | |
NM_001256657.1:c.73G>A | NP_001243586.1:p.Glu25Lys | |
NM_001311195.1:c.-199G>A | NP_001298124.1:n.-199G>A | |
NM_001311196.1:c.-199G>A | NP_001298125.1:n.-199G>A | |
NR_046333.1:c.-4294967167G>A | ||
NR_046334.1:c.-4294967167G>A | ||
XM_011510524.1:c.-199G>A | XP_011508826.1:n.-199G>A | |
XM_011510524.2:c.-199G>A | XP_011508826.1:n.-199G>A | |
NM_000751.3:c.73G>A MANE Select | NP_000742.1:p.Glu25Lys | |
NM_001311195.2:c.-199G>A | NP_001298124.1:n.-199G>A | |
NM_001311196.2:c.-199G>A | NP_001298125.1:n.-199G>A | |
NM_001256657.2:c.73G>A | NP_001243586.1:p.Glu25Lys |