gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.3925645 (AFR)
Genomes Max Group AF
0.3925645 (AFR)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.63768838G>T , CM000676.2:g.63768838G>T | GRCh38 |
| NC_000014.8:g.64235556G>T , CM000676.1:g.64235556G>T | GRCh37 |
| NC_000014.7:g.63305309G>T | NCBI36 |
| NG_011756.2:g.11940G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000674003.1:c.-305+6852G>T | ENSP00000501132.1:n.-305+6852G>T | |
| XM_011536576.2:c.-305+6852G>T | XP_011534878.1:n.-305+6852G>T |