Revel Score:
ENST00000330597 (MANE Select)
0.657
ENST00000380256
0.657
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.5249729C>G , CM000673.2:g.5249729C>G | GRCh38 |
| NC_000011.9:g.5270959C>G , CM000673.1:g.5270959C>G | GRCh37 |
| NC_000011.8:g.5227535C>G | NCBI36 |
| NG_000007.3:g.47887G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000330597.5:c.76G>C (HBG1) MANE Select | ENSP00000327431.4:p.Gly26Arg | |
| ENST00000642908.1:c.316-1242G>C | ENSP00000495346.1:n.316-1242G>C | |
| ENST00000647543.1:c.379-1242G>C | ENSP00000496470.1:n.379-1242G>C | |
| ENST00000648735.1:n.127G>C (HBG1) | ||
| ENST00000330597.3:c.76G>C (HBG1) | ENSP00000327431.3:p.Gly26Arg | |
| ENST00000620888.4:c.316-1242G>C (HBG2) | ENSP00000479637.1:n.316-1242G>C | |
| ENST00000623781.1:c.282C>G | ENSP00000485381.1:p.Ser94= | |
| ENST00000632727.1:c.54+22G>C (HBG1) | ENSP00000488759.1:n.54+22G>C | |
| NM_000559.2:c.76G>C (HBG1) | NP_000550.2:p.Gly26Arg | |
| NM_000559.3:c.76G>C (HBG1) MANE Select | NP_000550.2:p.Gly26Arg |