HGVS | Genome Assembly |
---|---|
NC_000015.10:g.84840524G= , CM000677.2:g.84840524G= | GRCh38 |
NC_000015.9:g.85383755G= , CM000677.1:g.85383755G= | GRCh37 |
NC_000015.8:g.83184759G= | NCBI36 |
NG_054748.1:g.28894G= |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000258888.6:c.1245G= MANE Select | ENSP00000258888.6:p.Leu415= | |
ENST00000258888.5:c.1851G= | ENSP00000258888.5:p.Leu617= | |
NM_020778.4:c.1851G= | NP_065829.3:p.Leu617= | |
NM_020778.5:c.1245G= MANE Select | NP_065829.4:p.Leu415= |