HGVS | Genome Assembly |
---|---|
NC_000005.10:g.149978333T>G , CM000667.2:g.149978333T>G | GRCh38 |
NC_000005.9:g.149357896T>G , CM000667.1:g.149357896T>G | GRCh37 |
NC_000005.8:g.149338089T>G | NCBI36 |
NG_007147.2:g.19451T>G , LRG_684:g.19451T>G |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000690410.1:n.913T>G | ||
ENST00000286298.5:c.681T>G MANE Select | ENSP00000286298.4:p.Phe227Leu | |
ENST00000286298.4:c.681T>G | ENSP00000286298.4:p.Phe227Leu | |
ENST00000503336.1:c.354T>G | ENSP00000426053.1:p.Phe118Leu | |
NM_000112.3:c.681T>G , LRG_684t1:c.681T>G | NP_000103.2:p.Phe227Leu | |
XM_017009191.2:c.681T>G | XP_016864680.1:p.Phe227Leu | |
NM_000112.4:c.681T>G MANE Select | NP_000103.2:p.Phe227Leu |