Revel Score:
ENST00000330597 (MANE Select)
0.426
ENST00000380256
0.426
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.5249737T>A , CM000673.2:g.5249737T>A | GRCh38 |
| NC_000011.9:g.5270967T>A , CM000673.1:g.5270967T>A | GRCh37 |
| NC_000011.8:g.5227543T>A | NCBI36 |
| NG_000007.3:g.47879A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000330597.5:c.68A>T (HBG1) MANE Select | ENSP00000327431.4:p.Asp23Val | |
| ENST00000642908.1:c.316-1250A>T | ENSP00000495346.1:n.316-1250A>T | |
| ENST00000647543.1:c.379-1250A>T | ENSP00000496470.1:n.379-1250A>T | |
| ENST00000648735.1:n.119A>T (HBG1) | ||
| ENST00000330597.3:c.68A>T (HBG1) | ENSP00000327431.3:p.Asp23Val | |
| ENST00000620888.4:c.316-1250A>T (HBG2) | ENSP00000479637.1:n.316-1250A>T | |
| ENST00000623781.1:c.290T>A | ENSP00000485381.1:p.Ile97Asn | |
| ENST00000632727.1:c.54+14A>T (HBG1) | ENSP00000488759.1:n.54+14A>T | |
| NM_000559.2:c.68A>T (HBG1) | NP_000550.2:p.Asp23Val | |
| NM_000559.3:c.68A>T (HBG1) MANE Select | NP_000550.2:p.Asp23Val |