Revel Score:
ENST00000330597 (MANE Select)
0.740
ENST00000380256
0.740
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00000807 (NFE)
Exomes Max Group AF
0.00000751 (NFE)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.5249390T>C , CM000673.2:g.5249390T>C | GRCh38 |
| NC_000011.9:g.5270620T>C , CM000673.1:g.5270620T>C | GRCh37 |
| NC_000011.8:g.5227196T>C | NCBI36 |
| NG_000007.3:g.48226A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000330597.5:c.293A>G (HBG1) MANE Select | ENSP00000327431.4:p.His98Arg | |
| ENST00000642908.1:c.316-903A>G | ENSP00000495346.1:n.316-903A>G | |
| ENST00000647543.1:c.379-903A>G | ENSP00000496470.1:n.379-903A>G | |
| ENST00000648735.1:n.344A>G (HBG1) | ||
| ENST00000330597.3:c.293A>G (HBG1) | ENSP00000327431.3:p.His98Arg | |
| ENST00000620888.4:c.316-903A>G (HBG2) | ENSP00000479637.1:n.316-903A>G | |
| ENST00000623781.1:c.62T>C | ENSP00000485381.1:p.Met21Thr | |
| ENST00000632727.1:c.*162A>G (HBG1) | ENSP00000488759.1:n.*162A>G | |
| NM_000559.2:c.293A>G (HBG1) | NP_000550.2:p.His98Arg | |
| NM_000559.3:c.293A>G (HBG1) MANE Select | NP_000550.2:p.His98Arg |