Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.5248394C>T , CM000673.2:g.5248394C>T | GRCh38 |
| NC_000011.9:g.5269624C>T , CM000673.1:g.5269624C>T | GRCh37 |
| NC_000011.8:g.5226200C>T | NCBI36 |
| NG_000007.3:g.49222G>A | |
| NG_063112.2:g.264G>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000559.3:c.409G>A (HBG1) MANE Select | NP_000550.2:p.Ala137Thr |
| ENST00000330597.5:c.409G>A (HBG1) MANE Select | ENSP00000327431.4:p.Ala137Thr |
| NM_000559.2:c.409G>A (HBG1) | NP_000550.2:p.Ala137Thr |
| ENST00000330597.3:c.409G>A (HBG1) | ENSP00000327431.3:p.Ala137Thr |
| ENST00000620888.4:c.409G>A (HBG2) | ENSP00000479637.1:p.Ala137Thr |
| ENST00000642908.1:c.409G>A | ENSP00000495346.1:p.Ala137Thr |
| ENST00000647543.1:c.472G>A | ENSP00000496470.1:p.Ala158Thr |
| ENST00000648735.1:n.1340G>A (HBG1) |