HGVS | Genome Assembly |
---|---|
NC_000011.10:g.5249892C>T , CM000673.2:g.5249892C>T | GRCh38 |
NC_000011.9:g.5271122C>T , CM000673.1:g.5271122C>T | GRCh37 |
NC_000011.8:g.5227698C>T | NCBI36 |
NG_000007.3:g.47724G>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000642908.1:c.316-1405G>A | ENSP00000495346.1:n.316-1405G>A | |
ENST00000647543.1:c.379-1405G>A | ENSP00000496470.1:n.379-1405G>A | |
ENST00000330597.3:c.-88G>A (HBG1) | ENSP00000327431.3:n.-88G>A | |
ENST00000620888.4:c.316-1405G>A (HBG2) | ENSP00000479637.1:n.316-1405G>A |