HGVS | Genome Assembly |
---|---|
NC_000001.11:g.160135278G>A , CM000663.2:g.160135278G>A | GRCh38 |
NC_000001.10:g.160105068G>A , CM000663.1:g.160105068G>A | GRCh37 |
NC_000001.9:g.158371692G>A | NCBI36 |
NG_008014.1:g.24521G>A , LRG_6:g.24521G>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000361216.8:c.2098G>A MANE Select | ENSP00000354490.3:p.Glu700Lys | |
ENST00000361216.7:c.2098G>A | ENSP00000354490.3:p.Glu700Lys | |
ENST00000392233.7:c.2098G>A | ENSP00000376066.3:p.Glu700Lys | |
ENST00000447527.1:c.1230G>A | ||
ENST00000472488.5:n.2201G>A | ||
NM_000702.3:c.2098G>A | NP_000693.1:p.Glu700Lys | |
NM_000702.4:c.2098G>A MANE Select | NP_000693.1:p.Glu700Lys |