HGVS | Genome Assembly |
---|---|
NC_000011.10:g.6319417G>C , CM000673.2:g.6319417G>C | GRCh38 |
NC_000011.9:g.6340647G>C , CM000673.1:g.6340647G>C | GRCh37 |
NC_000011.8:g.6297223G>C | NCBI36 |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000303927.4:c.532C>G MANE Select | ENSP00000307292.3:p.Leu178Val | |
ENST00000303927.3:c.532C>G | ENSP00000307292.3:p.Leu178Val | |
ENST00000524852.1:n.318C>G | ||
ENST00000530979.1:c.628C>G | ENSP00000432047.1:p.Leu210Val | |
ENST00000532354.1:n.554C>G | ||
NM_145040.2:c.532C>G | NP_659477.2:p.Leu178Val | |
XR_930997.1:n.720+1197G>C | ||
XR_001748106.1:n.28G>C | ||
XR_242848.4:n.277G>C | ||
NM_145040.3:c.532C>G MANE Select | NP_659477.2:p.Leu178Val |