HGVS | Genome Assembly |
---|---|
NC_000006.12:g.1610781C>A , CM000668.2:g.1610781C>A | GRCh38 |
NC_000006.11:g.1611016C>A , CM000668.1:g.1611016C>A | GRCh37 |
NC_000006.10:g.1556015C>A | NCBI36 |
NG_009368.1:g.5336C>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000645831.2:c.336C>A MANE Select | ENSP00000493906.1:p.Phe112Leu | |
ENST00000380874.3:c.336C>A | ENSP00000370256.2:p.Phe112Leu | |
NM_001453.2:c.336C>A | NP_001444.2:p.Phe112Leu | |
NM_001453.3:c.336C>A MANE Select | NP_001444.2:p.Phe112Leu |