gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.99324809 (NFE)
Genomes Max Group AF
0.99324809 (NFE)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.5496926A>G , CM000673.2:g.5496926A>G | GRCh38 |
| NC_000011.9:g.5518156A>G , CM000673.1:g.5518156A>G | GRCh37 |
| NC_000011.8:g.5474732A>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000292896.3:c.-267+8643T>C (HBE1) | ENSP00000292896.2:n.-267+8643T>C | |
| ENST00000380252.6:c.-74+8425T>C (HBG2) | ENSP00000369602.2:n.-74+8425T>C | |
| ENST00000380259.7:c.982+93899T>C | ENSP00000369609.3:n.982+93899T>C | |
| ENST00000415970.6:n.84+8643T>C (OR51B5) | ||
| ENST00000418729.1:n.84+8643T>C (OR51B5) | ||
| ENST00000420465.6:n.45+8643T>C (OR51B5) | ||
| ENST00000420726.6:n.45+8643T>C (OR51B5) | ||
| ENST00000380237.5:c.-310+8643T>C (HBE1) | ENSP00000369586.1:n.-310+8643T>C | |
| ENST00000380252.5:c.62+8425T>C (HBG2) | ENSP00000369602.1:n.62+8425T>C | |
| ENST00000380259.6:c.-565+93899T>C (HBG2) | ENSP00000369609.2:n.-565+93899T>C | |
| ENST00000396895.1:c.-267+8643T>C (HBE1) | ENSP00000380104.1:n.-267+8643T>C | |
| NM_001005567.2:c.-360+8643T>C (OR51B5) | NP_001005567.2:n.-360+8643T>C | |
| NR_038321.1:n.84+8643T>C (OR51B5) | ||
| NM_001005567.3:c.-360+8643T>C (OR51B5) | NP_001005567.2:n.-360+8643T>C | |
| NR_038321.2:n.84+8643T>C (OR51B5) |