HGVS | Genome Assembly |
---|---|
NC_000015.10:g.42958214T= , CM000677.2:g.42958214T= | GRCh38 |
NC_000015.9:g.43250412T= , CM000677.1:g.43250412T= | GRCh37 |
NC_000015.8:g.41037704T= | NCBI36 |
NG_012182.1:g.152875A= |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000290650.9:c.4758-124A= MANE Select | ENSP00000290650.4:n.4758-124A= | |
ENST00000290650.8:c.4758-124A= | ENSP00000290650.4:n.4758-124A= | |
NM_174916.2:c.4758-124A= | NP_777576.1:n.4758-124A= | |
NM_174916.3:c.4758-124A= MANE Select | NP_777576.1:n.4758-124A= |