HGVS | Genome Assembly |
---|---|
NC_000003.12:g.129528793A>C , CM000665.2:g.129528793A>C | GRCh38 |
NC_000003.11:g.129247636A>C , CM000665.1:g.129247636A>C | GRCh37 |
NC_000003.10:g.130730326A>C | NCBI36 |
NG_009115.1:g.5155A>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000296271.4:c.60A>C MANE Select | ENSP00000296271.3:p.Val20= | |
ENST00000296271.3:c.60A>C | ENSP00000296271.3:p.Val20= | |
NM_000539.3:c.60A>C MANE Select | NP_000530.1:p.Val20= |