HGVS | Genome Assembly |
---|---|
NC_000007.14:g.22731537C>G , CM000669.2:g.22731537C>G | GRCh38 |
NC_000007.13:g.22771156C>G , CM000669.1:g.22771156C>G | GRCh37 |
NC_000007.12:g.22737681C>G | NCBI36 |
NG_011640.1:g.9391C>G |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000258743.10:c.603C>G MANE Select | ENSP00000258743.5:p.Phe201Leu | |
ENST00000258743.9:c.603C>G | ENSP00000258743.5:p.Phe201Leu | |
ENST00000401630.7:c.534C>G | ENSP00000384928.3:p.Phe178Leu | |
ENST00000404625.5:c.603C>G | ENSP00000385675.1:p.Phe201Leu | |
ENST00000407492.5:c.375C>G | ENSP00000385043.1:p.Phe125Leu | |
ENST00000485300.1:n.828C>G | ||
NM_000600.3:c.603C>G | NP_000591.1:p.Phe201Leu | |
XM_011515390.1:c.603C>G | XP_011513692.1:p.Phe201Leu | |
XM_011515391.1:c.375C>G | XP_011513693.1:p.Phe125Leu | |
NM_000600.4:c.603C>G | NP_000591.1:p.Phe201Leu | |
NM_001318095.1:c.375C>G | NP_001305024.1:p.Phe125Leu | |
XM_011515390.2:c.603C>G | XP_011513692.1:p.Phe201Leu | |
NM_000600.5:c.603C>G MANE Select | NP_000591.1:p.Phe201Leu | |
NM_001318095.2:c.375C>G | NP_001305024.1:p.Phe125Leu | |
NM_001371096.1:c.534C>G | NP_001358025.1:p.Phe178Leu |