HGVS | Genome Assembly |
---|---|
NC_000008.11:g.11491491C= , CM000670.2:g.11491491C= | GRCh38 |
NC_000008.10:g.11349000C= , CM000670.1:g.11349000C= | GRCh37 |
NC_000008.9:g.11386409C= | NCBI36 |
NG_023543.1:g.2480C= | |
NG_023543.2:g.2480C= |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000696154.2:n.274+4324C= | ||
ENST00000696154.1:c.-91+4324C= | ENSP00000512445.1:n.-91+4324C= | |
ENST00000645242.1:c.-91+4324C= | ENSP00000494690.1:n.-91+4324C= |