HGVS | Genome Assembly |
---|---|
NC_000012.12:g.48981741C>A , CM000674.2:g.48981741C>A | GRCh38 |
NC_000012.11:g.49375524C>A , CM000674.1:g.49375524C>A | GRCh37 |
NC_000012.10:g.47661791C>A | NCBI36 |
NG_033141.1:g.8289C>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000293549.4:c.*101C>A MANE Select | ENSP00000293549.3:n.*101C>A | |
NM_005430.3:c.*101C>A | NP_005421.1:n.*101C>A | |
NM_005430.4:c.*101C>A MANE Select | NP_005421.1:n.*101C>A |