HGVS | Genome Assembly |
---|---|
NC_000005.10:g.53603451G>A , CM000667.2:g.53603451G>A | GRCh38 |
NC_000005.9:g.52899281G>A , CM000667.1:g.52899281G>A | GRCh37 |
NC_000005.8:g.52935038G>A | NCBI36 |
NG_008200.1:g.47817G>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000296684.10:c.99-1G>A MANE Select | ENSP00000296684.5:n.99-1G>A | |
ENST00000296684.9:c.99-1G>A | ENSP00000296684.5:n.99-1G>A | |
ENST00000502423.5:c.99-1G>A | ENSP00000422177.1:n.99-1G>A | |
ENST00000506765.1:c.87-1G>A | ENSP00000424570.1:n.87-1G>A | |
ENST00000506974.5:c.99-1G>A | ENSP00000425967.1:n.99-1G>A | |
ENST00000507026.5:c.*73-1G>A | ENSP00000424993.1:n.*73-1G>A | |
NM_002495.2:c.99-1G>A | NP_002486.1:n.99-1G>A | |
XM_005248525.3:c.99-1G>A | XP_005248582.1:n.99-1G>A | |
XM_011543414.1:c.99-1G>A | XP_011541716.1:n.99-1G>A | |
XM_011543415.1:c.-249G>A | XP_011541717.1:n.-249G>A | |
NM_001318051.1:c.99-1G>A | NP_001304980.1:n.99-1G>A | |
NM_002495.3:c.99-1G>A | NP_002486.1:n.99-1G>A | |
NR_134473.1:n.129-1G>A | ||
NR_134474.1:n.129-1G>A | ||
NR_134475.1:n.253-1G>A | ||
XM_017009491.1:c.99-1G>A | XP_016864980.1:n.99-1G>A | |
NM_002495.4:c.99-1G>A MANE Select | NP_002486.1:n.99-1G>A | |
NM_001318051.2:c.99-1G>A | NP_001304980.1:n.99-1G>A | |
NR_134473.2:n.123-1G>A | ||
NR_134474.2:n.123-1G>A | ||
NR_134475.2:n.247-1G>A |