HGVS | Genome Assembly |
---|---|
NC_000007.14:g.94404506C>A , CM000669.2:g.94404506C>A | GRCh38 |
NC_000007.13:g.94033818C>A , CM000669.1:g.94033818C>A | GRCh37 |
NC_000007.12:g.93871754C>A | NCBI36 |
NG_007405.1:g.14946C>A , LRG_2:g.14946C>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000297268.11:c.280-50C>A MANE Select | ENSP00000297268.6:n.280-50C>A | |
ENST00000297268.10:c.280-50C>A | ENSP00000297268.6:n.280-50C>A | |
ENST00000620463.1:c.274-50C>A | ENSP00000477719.1:n.274-50C>A | |
NM_000089.3:c.280-50C>A , LRG_2t1:c.280-50C>A | NP_000080.2:n.280-50C>A | |
NM_000089.4:c.280-50C>A MANE Select | NP_000080.2:n.280-50C>A |