HGVS | Genome Assembly |
---|---|
NC_000012.12:g.48981773C>A , CM000674.2:g.48981773C>A | GRCh38 |
NC_000012.11:g.49375556C>A , CM000674.1:g.49375556C>A | GRCh37 |
NC_000012.10:g.47661823C>A | NCBI36 |
NG_033141.1:g.8321C>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000293549.4:c.*133C>A MANE Select | ENSP00000293549.3:n.*133C>A | |
NM_005430.3:c.*133C>A | NP_005421.1:n.*133C>A | |
NM_005430.4:c.*133C>A MANE Select | NP_005421.1:n.*133C>A |