gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.89284032 (NFE)
Genomes Max Group AF
0.89284032 (NFE)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.127472793A>C , CM000670.2:g.127472793A>C | GRCh38 |
| NC_000008.10:g.128485038A>C , CM000670.1:g.128485038A>C | GRCh37 |
| NC_000008.9:g.128554220A>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| NR_024393.1:n.1041+6290T>G | ||
| NR_117100.1:n.1041+6290T>G |