HGVS | Genome Assembly |
---|---|
NC_000015.10:g.78534550C>A , CM000677.2:g.78534550C>A | GRCh38 |
NC_000015.9:g.78826892C>A , CM000677.1:g.78826892C>A | GRCh37 |
NC_000015.8:g.76613947C>A | NCBI36 |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000388988.9:c.*880C>A MANE Select | ENSP00000373640.4:n.*880C>A | |
ENST00000408962.6:c.662-2750C>A | ENSP00000386197.2:n.662-2750C>A | |
ENST00000563233.2:c.662-2750C>A | ENSP00000454850.1:n.662-2750C>A | |
ENST00000569878.5:c.2002C>A | ENSP00000455459.1:n.2002C>A | |
NM_001083612.1:c.662-2750C>A | NP_001077081.1:n.662-2750C>A | |
NM_001013619.3:c.*880C>A | NP_001013641.2:n.*880C>A | |
NM_001013619.4:c.*880C>A MANE Select | NP_001013641.2:n.*880C>A | |
NM_001083612.2:c.662-2750C>A | NP_001077081.1:n.662-2750C>A |