gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.83479164 (AFR)
Genomes Max Group AF
0.83479164 (AFR)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.71241014A>G , CM000674.2:g.71241014A>G | GRCh38 |
| NC_000012.11:g.71634794A>G , CM000674.1:g.71634794A>G | GRCh37 |
| NC_000012.10:g.69921061A>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000393330.6:c.-110+36337T>C | ENSP00000377003.2:n.-110+36337T>C | |
| ENST00000549421.1:n.206+41702T>C |