HGVS | Genome Assembly |
---|---|
NC_000011.10:g.66560720C>A , CM000673.2:g.66560720C>A | GRCh38 |
NC_000011.9:g.66328191C>A , CM000673.1:g.66328191C>A | GRCh37 |
NC_000011.8:g.66084767C>A | NCBI36 |
NG_013304.2:g.18801C>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000513398.2:c.1825C>A MANE Select | ENSP00000426797.1:p.Leu609Ile | |
ENST00000502692.5:c.1954C>A | ENSP00000422007.1:p.Leu652Ile | |
ENST00000513398.1:c.1825C>A | ENSP00000426797.1:p.Leu609Ile | |
NM_001104.3:c.1825C>A | NP_001095.2:p.Leu609Ile | |
NM_001258371.2:c.1954C>A | NP_001245300.2:p.Leu652Ile | |
NM_001104.4:c.1825C>A MANE Select | NP_001095.2:p.Leu609Ile | |
NM_001258371.3:c.1954C>A | NP_001245300.2:p.Leu652Ile |