HGVS | Genome Assembly |
---|---|
NC_000010.11:g.12084759G>A , CM000672.2:g.12084759G>A | GRCh38 |
NC_000010.10:g.12126758G>A , CM000672.1:g.12126758G>A | GRCh37 |
NC_000010.9:g.12166764G>A | NCBI36 |
NG_033248.1:g.20843G>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000263035.9:c.522+8G>A MANE Select | ENSP00000263035.4:n.522+8G>A | |
ENST00000263035.8:c.522+8G>A | ENSP00000263035.4:n.522+8G>A | |
ENST00000437298.1:c.522+8G>A | ENSP00000388163.1:n.522+8G>A | |
ENST00000465617.1:n.105-2776G>A | ||
NM_018706.6:c.522+8G>A | NP_061176.3:n.522+8G>A | |
NM_018706.7:c.522+8G>A MANE Select | NP_061176.4:n.522+8G>A |