HGVS | Genome Assembly |
---|---|
NC_000005.10:g.149980560G>A , CM000667.2:g.149980560G>A | GRCh38 |
NC_000005.9:g.149360123G>A , CM000667.1:g.149360123G>A | GRCh37 |
NC_000005.8:g.149340316G>A | NCBI36 |
NG_007147.2:g.21678G>A , LRG_684:g.21678G>A |
HGVS | Amino-acid change | |
---|---|---|
ENST00000286298.5:c.967G>A MANE Select | ENSP00000286298.4:p.Glu323Lys | |
ENST00000286298.4:c.967G>A | ENSP00000286298.4:p.Glu323Lys | |
ENST00000503336.1:c.372+2209G>A | ENSP00000426053.1:n.372+2209G>A | |
NM_000112.3:c.967G>A , LRG_684t1:c.967G>A | NP_000103.2:p.Glu323Lys | |
XM_017009191.2:c.967G>A | XP_016864680.1:p.Glu323Lys | |
NM_000112.4:c.967G>A MANE Select | NP_000103.2:p.Glu323Lys |