HGVS | Genome Assembly |
---|---|
NC_000007.14:g.94415266C>A , CM000669.2:g.94415266C>A | GRCh38 |
NC_000007.13:g.94044578C>A , CM000669.1:g.94044578C>A | GRCh37 |
NC_000007.12:g.93882514C>A | NCBI36 |
NG_007405.1:g.25706C>A , LRG_2:g.25706C>A |
HGVS | Amino-acid change | |
---|---|---|
ENST00000297268.11:c.1760C>A MANE Select | ENSP00000297268.6:p.Pro587Gln | |
ENST00000297268.10:c.1760C>A | ENSP00000297268.6:p.Pro587Gln | |
ENST00000473573.5:n.97C>A | ||
ENST00000488298.5:n.184C>A | ||
ENST00000620463.1:c.1754C>A | ENSP00000477719.1:p.Pro585Gln | |
NM_000089.3:c.1760C>A , LRG_2t1:c.1760C>A | NP_000080.2:p.Pro587Gln | |
NM_000089.4:c.1760C>A MANE Select | NP_000080.2:p.Pro587Gln |