HGVS | Genome Assembly |
---|---|
NC_000020.11:g.57562856T>G , CM000682.2:g.57562856T>G | GRCh38 |
NC_000020.10:g.56137912T>G , CM000682.1:g.56137912T>G | GRCh37 |
NC_000020.9:g.55571318T>G | NCBI36 |
NG_008205.1:g.6776T>G |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000319441.6:c.567T>G MANE Select | ENSP00000319814.4:p.Phe189Leu | |
ENST00000319441.5:c.567T>G | ENSP00000319814.4:p.Phe189Leu | |
ENST00000467047.1:n.1777T>G | ||
ENST00000470051.1:n.23T>G | ||
ENST00000498194.1:n.509T>G | ||
NM_002591.3:c.567T>G | NP_002582.3:p.Phe189Leu | |
XM_011528839.1:c.171T>G | XP_011527141.1:p.Phe57Leu | |
XM_024451888.1:c.171T>G | XP_024307656.1:p.Phe57Leu | |
NM_002591.4:c.567T>G MANE Select | NP_002582.3:p.Phe189Leu |