HGVS | Genome Assembly |
---|---|
NC_000018.10:g.7068463C>G , CM000680.2:g.7068463C>G | GRCh38 |
NC_000018.9:g.7068462C>G , CM000680.1:g.7068462C>G | GRCh37 |
NC_000018.8:g.7058462C>G | NCBI36 |
NG_034251.1:g.54352G>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000389658.4:c.345+11512G>C MANE Select | ENSP00000374309.3:n.345+11512G>C | |
ENST00000389658.3:c.345+11512G>C | ENSP00000374309.3:n.345+11512G>C | |
ENST00000579014.5:n.384+11512G>C | ||
NM_005559.3:c.345+11512G>C | NP_005550.2:n.345+11512G>C | |
XM_011525655.1:c.345+11512G>C | XP_011523957.1:n.345+11512G>C | |
XM_011525657.1:c.345+11512G>C | XP_011523959.1:n.345+11512G>C | |
XM_011525655.2:c.345+11512G>C | XP_011523957.1:n.345+11512G>C | |
NM_005559.4:c.345+11512G>C MANE Select | NP_005550.2:n.345+11512G>C |