HGVS | Genome Assembly |
---|---|
NC_000005.10:g.149980774T>G , CM000667.2:g.149980774T>G | GRCh38 |
NC_000005.9:g.149360337T>G , CM000667.1:g.149360337T>G | GRCh37 |
NC_000005.8:g.149340530T>G | NCBI36 |
NG_007147.2:g.21892T>G , LRG_684:g.21892T>G |
HGVS | Amino-acid change | |
---|---|---|
ENST00000286298.5:c.1181T>G MANE Select | ENSP00000286298.4:p.Phe394Cys | |
ENST00000286298.4:c.1181T>G | ENSP00000286298.4:p.Phe394Cys | |
ENST00000503336.1:c.372+2423T>G | ENSP00000426053.1:n.372+2423T>G | |
NM_000112.3:c.1181T>G , LRG_684t1:c.1181T>G | NP_000103.2:p.Phe394Cys | |
XM_017009191.2:c.1181T>G | XP_016864680.1:p.Phe394Cys | |
NM_000112.4:c.1181T>G MANE Select | NP_000103.2:p.Phe394Cys |