HGVS | Genome Assembly |
---|---|
NC_000003.12:g.129532735T>A , CM000665.2:g.129532735T>A | GRCh38 |
NC_000003.11:g.129251578T>A , CM000665.1:g.129251578T>A | GRCh37 |
NC_000003.10:g.130734268T>A | NCBI36 |
NG_009115.1:g.9097T>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000296271.4:c.899T>A MANE Select | ENSP00000296271.3:p.Ile300Asn | |
ENST00000296271.3:c.899T>A | ENSP00000296271.3:p.Ile300Asn | |
NM_000539.3:c.899T>A MANE Select | NP_000530.1:p.Ile300Asn |