HGVS | Genome Assembly |
---|---|
NC_000007.14:g.94423079C>A , CM000669.2:g.94423079C>A | GRCh38 |
NC_000007.13:g.94052391C>A , CM000669.1:g.94052391C>A | GRCh37 |
NC_000007.12:g.93890327C>A | NCBI36 |
NG_007405.1:g.33519C>A , LRG_2:g.33519C>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000297268.11:c.2526C>A MANE Select | ENSP00000297268.6:p.Phe842Leu | |
ENST00000297268.10:c.2526C>A | ENSP00000297268.6:p.Phe842Leu | |
ENST00000481570.5:n.609C>A | ||
ENST00000497316.5:n.923C>A | ||
ENST00000620463.1:c.2520C>A | ENSP00000477719.1:p.Phe840Leu | |
NM_000089.3:c.2526C>A , LRG_2t1:c.2526C>A | NP_000080.2:p.Phe842Leu | |
NM_000089.4:c.2526C>A MANE Select | NP_000080.2:p.Phe842Leu |