gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.46060019 (NFE)
Genomes Max Group AF
0.46060019 (NFE)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.40852719T>C , CM000681.2:g.40852719T>C | GRCh38 |
| NC_000019.9:g.41358624T>C , CM000681.1:g.41358624T>C | GRCh37 |
| NC_000019.8:g.46050464T>C | NCBI36 |
| NG_008377.1:g.2729A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000601627.1:c.120-39272T>C | ||
| ENST00000610301.1:c.91-2383A>G | ENSP00000477899.1:n.91-2383A>G |