HGVS | Genome Assembly |
---|---|
NC_000003.12:g.129532290C>A , CM000665.2:g.129532290C>A | GRCh38 |
NC_000003.11:g.129251133C>A , CM000665.1:g.129251133C>A | GRCh37 |
NC_000003.10:g.130733823C>A | NCBI36 |
NG_009115.1:g.8652C>A |
HGVS | Amino-acid change | |
---|---|---|
ENST00000296271.4:c.570C>A MANE Select | ENSP00000296271.3:p.Asp190Glu | |
ENST00000296271.3:c.570C>A | ENSP00000296271.3:p.Asp190Glu | |
NM_000539.3:c.570C>A MANE Select | NP_000530.1:p.Asp190Glu |