HGVS | Genome Assembly |
---|---|
NC_000011.10:g.6319186G>A , CM000673.2:g.6319186G>A | GRCh38 |
NC_000011.9:g.6340416G>A , CM000673.1:g.6340416G>A | GRCh37 |
NC_000011.8:g.6296992G>A | NCBI36 |
HGVS | Amino-acid change | |
---|---|---|
ENST00000303927.4:c.763C>T MANE Select | ENSP00000307292.3:p.Leu255Phe | |
ENST00000303927.3:c.763C>T | ENSP00000307292.3:p.Leu255Phe | |
ENST00000524852.1:n.549C>T | ||
ENST00000530979.1:c.859C>T | ENSP00000432047.1:p.Leu287Phe | |
ENST00000532354.1:n.785C>T | ||
NM_145040.2:c.763C>T | NP_659477.2:p.Leu255Phe | |
XR_930997.1:n.720+966G>A | ||
XR_242848.4:n.46G>A | ||
NM_145040.3:c.763C>T MANE Select | NP_659477.2:p.Leu255Phe |