HGVS | Genome Assembly |
---|---|
NC_000011.10:g.5249999G>T , CM000673.2:g.5249999G>T | GRCh38 |
NC_000011.9:g.5271229G>T , CM000673.1:g.5271229G>T | GRCh37 |
NC_000011.8:g.5227805G>T | NCBI36 |
NG_000007.3:g.47617C>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000642908.1:c.316-1512C>A | ENSP00000495346.1:n.316-1512C>A | |
ENST00000647543.1:c.379-1512C>A | ENSP00000496470.1:n.379-1512C>A | |
ENST00000620888.4:c.316-1512C>A | ENSP00000479637.1:n.316-1512C>A |