Revel Score:
ENST00000330597 (MANE Select)
0.469
ENST00000380256
0.469
gnomAD v2:
gnomAD v4:
Joint Max Group AF
0.00002056 (AFR)
Exomes Max Group AF
0.00003914 (AFR)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.5249499T>C , CM000673.2:g.5249499T>C | GRCh38 |
| NC_000011.9:g.5270729T>C , CM000673.1:g.5270729T>C | GRCh37 |
| NC_000011.8:g.5227305T>C | NCBI36 |
| NG_000007.3:g.48117A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000330597.5:c.184A>G (HBG1) MANE Select | ENSP00000327431.4:p.Lys62Glu | |
| ENST00000642908.1:c.316-1012A>G | ENSP00000495346.1:n.316-1012A>G | |
| ENST00000647543.1:c.379-1012A>G | ENSP00000496470.1:n.379-1012A>G | |
| ENST00000648735.1:n.235A>G (HBG1) | ||
| ENST00000330597.3:c.184A>G (HBG1) | ENSP00000327431.3:p.Lys62Glu | |
| ENST00000620888.4:c.316-1012A>G (HBG2) | ENSP00000479637.1:n.316-1012A>G | |
| ENST00000623781.1:c.171T>C | ENSP00000485381.1:p.Leu57= | |
| ENST00000632727.1:c.*53A>G (HBG1) | ENSP00000488759.1:n.*53A>G | |
| NM_000559.2:c.184A>G (HBG1) | NP_000550.2:p.Lys62Glu | |
| NM_000559.3:c.184A>G (HBG1) MANE Select | NP_000550.2:p.Lys62Glu |