HGVS | Genome Assembly |
---|---|
NC_000005.10:g.149977869A>G , CM000667.2:g.149977869A>G | GRCh38 |
NC_000005.9:g.149357432A>G , CM000667.1:g.149357432A>G | GRCh37 |
NC_000005.8:g.149337625A>G | NCBI36 |
NG_007147.2:g.18987A>G , LRG_684:g.18987A>G |
HGVS | Amino-acid change | |
---|---|---|
ENST00000690410.1:n.449A>G | ||
ENST00000286298.5:c.217A>G MANE Select | ENSP00000286298.4:p.Lys73Glu | |
ENST00000286298.4:c.217A>G | ENSP00000286298.4:p.Lys73Glu | |
NM_000112.3:c.217A>G , LRG_684t1:c.217A>G | NP_000103.2:p.Lys73Glu | |
XM_017009191.2:c.217A>G | XP_016864680.1:p.Lys73Glu | |
NM_000112.4:c.217A>G MANE Select | NP_000103.2:p.Lys73Glu |