Revel Score:
ENST00000330597 (MANE Select)
0.265
ENST00000380256
0.042
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00005798 (MID)
Genomes Max Group AF
0.00000488 (NFE)
Exomes Max Group AF
0.00006092 (MID)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.5248394C>A , CM000673.2:g.5248394C>A | GRCh38 |
| NC_000011.9:g.5269624C>A , CM000673.1:g.5269624C>A | GRCh37 |
| NC_000011.8:g.5226200C>A | NCBI36 |
| NG_000007.3:g.49222G>T | |
| NG_063112.2:g.264G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000330597.5:c.409G>T (HBG1) MANE Select | ENSP00000327431.4:p.Ala137Ser | |
| ENST00000642908.1:c.409G>T | ENSP00000495346.1:p.Ala137Ser | |
| ENST00000647543.1:c.472G>T | ENSP00000496470.1:p.Ala158Ser | |
| ENST00000648735.1:n.1340G>T (HBG1) | ||
| ENST00000330597.3:c.409G>T (HBG1) | ENSP00000327431.3:p.Ala137Ser | |
| ENST00000620888.4:c.409G>T (HBG2) | ENSP00000479637.1:p.Ala137Ser | |
| NM_000559.2:c.409G>T (HBG1) | NP_000550.2:p.Ala137Ser | |
| NM_000559.3:c.409G>T (HBG1) MANE Select | NP_000550.2:p.Ala137Ser |