HGVS | Genome Assembly |
---|---|
NC_000020.11:g.46011129C= , CM000682.2:g.46011129C= | GRCh38 |
NC_000020.10:g.44639768C= , CM000682.1:g.44639768C= | GRCh37 |
NC_000020.9:g.44073175C= | NCBI36 |
NG_011468.1:g.7222C= |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000372330.3:c.650-14C= MANE Select | ENSP00000361405.3:n.650-14C= | |
NM_004994.2:c.650-14C= | NP_004985.2:n.650-14C= | |
NM_004994.3:c.650-14C= MANE Select | NP_004985.2:n.650-14C= |