HGVS | Genome Assembly |
---|---|
NC_000003.12:g.129532051A>C , CM000665.2:g.129532051A>C | GRCh38 |
NC_000003.11:g.129250894A>C , CM000665.1:g.129250894A>C | GRCh37 |
NC_000003.10:g.130733584A>C | NCBI36 |
NG_009115.1:g.8413A>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000296271.4:c.531-200A>C MANE Select | ENSP00000296271.3:n.531-200A>C | |
ENST00000296271.3:c.531-200A>C | ENSP00000296271.3:n.531-200A>C | |
NM_000539.3:c.531-200A>C MANE Select | NP_000530.1:n.531-200A>C |