HGVS | Genome Assembly |
---|---|
NC_000003.12:g.129530879A>C , CM000665.2:g.129530879A>C | GRCh38 |
NC_000003.11:g.129249722A>C , CM000665.1:g.129249722A>C | GRCh37 |
NC_000003.10:g.130732412A>C | NCBI36 |
NG_009115.1:g.7241A>C |
HGVS | Amino-acid change | |
---|---|---|
ENST00000296271.4:c.365A>C MANE Select | ENSP00000296271.3:p.Glu122Ala | |
ENST00000296271.3:c.365A>C | ENSP00000296271.3:p.Glu122Ala | |
NM_000539.3:c.365A>C MANE Select | NP_000530.1:p.Glu122Ala |