Revel Score:
ENST00000330597 (MANE Select)
0.328
ENST00000380256
0.328
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.5249456G>T , CM000673.2:g.5249456G>T | GRCh38 |
| NC_000011.9:g.5270686G>T , CM000673.1:g.5270686G>T | GRCh37 |
| NC_000011.8:g.5227262G>T | NCBI36 |
| NG_000007.3:g.48160C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000330597.5:c.227C>A (HBG1) MANE Select | ENSP00000327431.4:p.Thr76Lys | |
| ENST00000642908.1:c.316-969C>A | ENSP00000495346.1:n.316-969C>A | |
| ENST00000647543.1:c.379-969C>A | ENSP00000496470.1:n.379-969C>A | |
| ENST00000648735.1:n.278C>A (HBG1) | ||
| ENST00000330597.3:c.227C>A (HBG1) | ENSP00000327431.3:p.Thr76Lys | |
| ENST00000620888.4:c.316-969C>A (HBG2) | ENSP00000479637.1:n.316-969C>A | |
| ENST00000623781.1:c.128G>T | ENSP00000485381.1:p.Cys43Phe | |
| ENST00000632727.1:c.*96C>A (HBG1) | ENSP00000488759.1:n.*96C>A | |
| NM_000559.2:c.227C>A (HBG1) | NP_000550.2:p.Thr76Lys | |
| NM_000559.3:c.227C>A (HBG1) MANE Select | NP_000550.2:p.Thr76Lys |