gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.20064212 (AFR)
Genomes Max Group AF
0.20064212 (AFR)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.3159771A>G , CM000681.2:g.3159771A>G | GRCh38 |
| NC_000019.9:g.3159769A>G , CM000681.1:g.3159769A>G | GRCh37 |
| NC_000019.8:g.3110769A>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000262958.4:c.898+1890A>G MANE Select | ENSP00000262958.2:n.898+1890A>G | |
| ENST00000262958.3:c.898+1890A>G | ENSP00000262958.2:n.898+1890A>G | |
| NM_002068.3:c.898+1890A>G | NP_002059.3:n.898+1890A>G | |
| NM_002068.4:c.898+1890A>G MANE Select | NP_002059.3:n.898+1890A>G |