HGVS | Genome Assembly |
---|---|
NC_000020.11:g.57562827G>T , CM000682.2:g.57562827G>T | GRCh38 |
NC_000020.10:g.56137883G>T , CM000682.1:g.56137883G>T | GRCh37 |
NC_000020.9:g.55571289G>T | NCBI36 |
NG_008205.1:g.6747G>T |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000319441.6:c.538G>T MANE Select | ENSP00000319814.4:p.Val180Phe | |
ENST00000319441.5:c.538G>T | ENSP00000319814.4:p.Val180Phe | |
ENST00000467047.1:n.1748G>T | ||
ENST00000498194.1:n.480G>T | ||
NM_002591.3:c.538G>T | NP_002582.3:p.Val180Phe | |
XM_011528839.1:c.142G>T | XP_011527141.1:p.Val48Phe | |
XM_024451888.1:c.142G>T | XP_024307656.1:p.Val48Phe | |
NM_002591.4:c.538G>T MANE Select | NP_002582.3:p.Val180Phe |