HGVS | Genome Assembly |
---|---|
NC_000011.10:g.5232911A= , CM000673.2:g.5232911A= | GRCh38 |
NC_000011.9:g.5254141A= , CM000673.1:g.5254141A= | GRCh37 |
NC_000011.8:g.5210717A= | NCBI36 |
NG_000007.3:g.64705T= | |
NG_063112.2:g.15747T= |
HGVS | Amino-acid change | |
---|---|---|
ENST00000643122.1:c.*53T= | ENSP00000494708.1:n.*53T= | |
ENST00000650601.1:c.*53T= MANE Select | ENSP00000497529.1:n.*53T= | |
ENST00000292901.7:c.316-113T= | ENSP00000292901.3:n.316-113T= | |
ENST00000380299.3:c.*53T= | ENSP00000369654.3:n.*53T= | |
NM_000519.3:c.*53T= | NP_000510.1:n.*53T= | |
NM_000519.4:c.*53T= MANE Select | NP_000510.1:n.*53T= |