HGVS | Genome Assembly |
---|---|
NC_000011.10:g.5250020T>G , CM000673.2:g.5250020T>G | GRCh38 |
NC_000011.9:g.5271250T>G , CM000673.1:g.5271250T>G | GRCh37 |
NC_000011.8:g.5227826T>G | NCBI36 |
NG_000007.3:g.47596A>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000642908.1:c.316-1533A>C | ENSP00000495346.1:n.316-1533A>C | |
ENST00000647543.1:c.379-1533A>C | ENSP00000496470.1:n.379-1533A>C | |
ENST00000620888.4:c.316-1533A>C | ENSP00000479637.1:n.316-1533A>C |