gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.73800197 (AFR)
Genomes Max Group AF
0.73799041 (AFR)
Exomes Max Group AF
0.41371456 (NFE)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.102363335A>G , CM000674.2:g.102363335A>G | GRCh38 |
| NC_000012.11:g.102757113A>G , CM000674.1:g.102757113A>G | GRCh37 |
| NC_000012.10:g.101281243A>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| XR_945270.1:n.581+14403A>G | ||
| XR_945271.1:n.581+14403A>G | ||
| XR_945272.1:n.581+14403A>G | ||
| XR_945273.1:n.532-40778A>G | ||
| XR_945274.1:n.257+14403A>G | ||
| XR_945275.1:n.137+14403A>G | ||
| XR_945277.1:n.581+14403A>G | ||
| XR_001749285.1:n.696+14403A>G | ||
| XR_001749286.1:n.257+14403A>G | ||
| XR_001749287.1:n.575+14403A>G |