HGVS | Genome Assembly |
---|---|
NC_000008.11:g.11491702C= , CM000670.2:g.11491702C= | GRCh38 |
NC_000008.10:g.11349211C= , CM000670.1:g.11349211C= | GRCh37 |
NC_000008.9:g.11386620C= | NCBI36 |
NG_023543.1:g.2691C= | |
NG_023543.2:g.2691C= |
HGVS | Amino-acid change | |
---|---|---|
ENST00000696154.2:n.274+4535C= | ||
ENST00000696154.1:c.-91+4535C= | ENSP00000512445.1:n.-91+4535C= | |
ENST00000645242.1:c.-91+4535C= | ENSP00000494690.1:n.-91+4535C= |