HGVS | Genome Assembly |
---|---|
NC_000012.12:g.48981718dup , CM000674.2:g.48981718dup | GRCh38 |
NC_000012.11:g.49375501dup , CM000674.1:g.49375501dup | GRCh37 |
NC_000012.10:g.47661768dup | NCBI36 |
NG_033141.1:g.8266dup |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000293549.4:c.*78dup MANE Select | ENSP00000293549.3:n.*78dup | |
NM_005430.3:c.*78dup | NP_005421.1:n.*78dup | |
NM_005430.4:c.*78dup MANE Select | NP_005421.1:n.*78dup |