HGVS | Genome Assembly |
---|---|
NC_000011.10:g.5249856G>C , CM000673.2:g.5249856G>C | GRCh38 |
NC_000011.9:g.5271086G>C , CM000673.1:g.5271086G>C | GRCh37 |
NC_000011.8:g.5227662G>C | NCBI36 |
NG_000007.3:g.47760C>G |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000330597.5:c.-52C>G (HBG1) MANE Select | ENSP00000327431.4:n.-52C>G | |
ENST00000642908.1:c.316-1369C>G | ENSP00000495346.1:n.316-1369C>G | |
ENST00000647543.1:c.379-1369C>G | ENSP00000496470.1:n.379-1369C>G | |
ENST00000330597.3:c.-52C>G (HBG1) | ENSP00000327431.3:n.-52C>G | |
ENST00000620888.4:c.316-1369C>G (HBG2) | ENSP00000479637.1:n.316-1369C>G | |
ENST00000623781.1:c.409G>C | ENSP00000485381.1:p.Val137Leu | |
NM_000559.2:c.-52C>G (HBG1) | NP_000550.2:n.-52C>G | |
NM_000559.3:c.-52C>G (HBG1) MANE Select | NP_000550.2:n.-52C>G |