gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.56573899 (AFR)
Genomes Max Group AF
0.56573899 (AFR)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.42276943A>G , CM000679.2:g.42276943A>G | GRCh38 |
| NC_000017.10:g.40428961A>G , CM000679.1:g.40428961A>G | GRCh37 |
| NC_000017.9:g.37682487A>G | NCBI36 |
| NG_007271.1:g.4464T>C , LRG_192:g.4464T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000698776.1:c.-11+10844T>C | ENSP00000513923.1:n.-11+10844T>C | |
| ENST00000698777.1:c.-11+11517T>C | ENSP00000513924.1:n.-11+11517T>C | |
| XM_024450897.1:c.-11+10844T>C | XP_024306665.1:n.-11+10844T>C |