HGVS | Genome Assembly |
---|---|
NC_000018.10:g.7042166G>C , CM000680.2:g.7042166G>C | GRCh38 |
NC_000018.9:g.7042165G>C , CM000680.1:g.7042165G>C | GRCh37 |
NC_000018.8:g.7032165G>C | NCBI36 |
NG_034251.1:g.80649C>G |
HGVS | Amino-acid change | |
---|---|---|
ENST00000389658.4:c.1240C>G MANE Select | ENSP00000374309.3:p.Leu414Val | |
ENST00000389658.3:c.1240C>G | ENSP00000374309.3:p.Leu414Val | |
ENST00000579014.5:n.2255C>G | ||
NM_005559.3:c.1240C>G | NP_005550.2:p.Leu414Val | |
XM_011525655.1:c.1240C>G | XP_011523957.1:p.Leu414Val | |
XM_011525657.1:c.1240C>G | XP_011523959.1:p.Leu414Val | |
XM_011525655.2:c.1240C>G | XP_011523957.1:p.Leu414Val | |
NM_005559.4:c.1240C>G MANE Select | NP_005550.2:p.Leu414Val |