gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.72884205 (AFR)
Genomes Max Group AF
0.72884205 (AFR)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.92311428A>G , CM000674.2:g.92311428A>G | GRCh38 |
| NC_000012.11:g.92705204A>G , CM000674.1:g.92705204A>G | GRCh37 |
| NC_000012.10:g.91229335A>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| XM_011539067.1:c.47-16926T>C | XP_011537369.1:n.47-16926T>C | |
| XR_945204.1:n.413-42449T>C | ||
| XR_001749257.2:n.414-38812T>C | ||
| XR_001749258.2:n.414-42449T>C | ||
| XR_001749259.2:n.414-22821T>C |