HGVS | Genome Assembly |
---|---|
NC_000008.11:g.11491607C= , CM000670.2:g.11491607C= | GRCh38 |
NC_000008.10:g.11349116C= , CM000670.1:g.11349116C= | GRCh37 |
NC_000008.9:g.11386525C= | NCBI36 |
NG_023543.1:g.2596C= | |
NG_023543.2:g.2596C= |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000696154.2:n.274+4440C= | ||
ENST00000696154.1:c.-91+4440C= | ENSP00000512445.1:n.-91+4440C= | |
ENST00000645242.1:c.-91+4440C= | ENSP00000494690.1:n.-91+4440C= |