HGVS | Genome Assembly |
---|---|
NC_000005.10:g.132868714G>A , CM000667.2:g.132868714G>A | GRCh38 |
NC_000005.9:g.132204406G>A , CM000667.1:g.132204406G>A | GRCh37 |
NC_000005.8:g.132232305G>A | NCBI36 |
NG_012221.1:g.7088G>A | |
NG_047051.1:g.3171C>T |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000378670.8:c.*1132G>A MANE Select | ENSP00000367939.3:n.*1132G>A | |
NM_014402.4:c.*1132G>A | NP_055217.2:n.*1132G>A | |
NM_014402.5:c.*1132G>A MANE Select | NP_055217.2:n.*1132G>A |