HGVS | Genome Assembly |
---|---|
NC_000020.11:g.57565390C>A , CM000682.2:g.57565390C>A | GRCh38 |
NC_000020.10:g.56140446C>A , CM000682.1:g.56140446C>A | GRCh37 |
NC_000020.9:g.55573852C>A | NCBI36 |
NG_008205.1:g.9310C>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000319441.6:c.1455C>A MANE Select | ENSP00000319814.4:p.Phe485Leu | |
ENST00000319441.5:c.1455C>A | ENSP00000319814.4:p.Phe485Leu | |
ENST00000467047.1:n.4097C>A | ||
ENST00000485958.1:n.579C>A | ||
NM_002591.3:c.1455C>A | NP_002582.3:p.Phe485Leu | |
XM_011528839.1:c.1059C>A | XP_011527141.1:p.Phe353Leu | |
XM_024451888.1:c.1059C>A | XP_024307656.1:p.Phe353Leu | |
NM_002591.4:c.1455C>A MANE Select | NP_002582.3:p.Phe485Leu |