Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.5249857T>G , CM000673.2:g.5249857T>G | GRCh38 |
| NC_000011.9:g.5271087T>G , CM000673.1:g.5271087T>G | GRCh37 |
| NC_000011.8:g.5227663T>G | NCBI36 |
| NG_000007.3:g.47759A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000330597.5:c.-53A>C (HBG1) MANE Select | ENSP00000327431.4:n.-53A>C | |
| ENST00000642908.1:c.316-1370A>C | ENSP00000495346.1:n.316-1370A>C | |
| ENST00000647543.1:c.379-1370A>C | ENSP00000496470.1:n.379-1370A>C | |
| ENST00000330597.3:c.-53A>C (HBG1) | ENSP00000327431.3:n.-53A>C | |
| ENST00000620888.4:c.316-1370A>C (HBG2) | ENSP00000479637.1:n.316-1370A>C | |
| ENST00000623781.1:c.410T>G | ENSP00000485381.1:p.Val137Gly | |
| NM_000559.2:c.-53A>C (HBG1) | NP_000550.2:n.-53A>C | |
| NM_000559.3:c.-53A>C (HBG1) MANE Select | NP_000550.2:n.-53A>C |