gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.14876701 (NFE)
Genomes Max Group AF
0.14876701 (NFE)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.124235467G>T , CM000667.2:g.124235467G>T | GRCh38 |
| NC_000005.9:g.123571160G>T , CM000667.1:g.123571160G>T | GRCh37 |
| NC_000005.8:g.123599059G>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| NR_125774.1:n.489+150762C>A |