gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.96334976 (AFR)
Genomes Max Group AF
0.96334976 (AFR)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.148223504A>G , CM000667.2:g.148223504A>G | GRCh38 |
| NC_000005.9:g.147603067A>G , CM000667.1:g.147603067A>G | GRCh37 |
| NC_000005.8:g.147583260A>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000513133.2:n.177+1632A>G | ||
| ENST00000637618.1:n.59+1707A>G | ||
| ENST00000638059.1:c.-119+1707A>G | ENSP00000489850.1:n.-119+1707A>G |