gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.24096566 (AFR)
Genomes Max Group AF
0.24096566 (AFR)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.61267922T>G , CM000676.2:g.61267922T>G | GRCh38 |
| NC_000014.8:g.61734640T>G , CM000676.1:g.61734640T>G | GRCh37 |
| NC_000014.7:g.60804393T>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000555185.5:c.-19+80254T>G | ENSP00000451871.1:n.-19+80254T>G | |
| ENST00000556778.5:c.-57+80254T>G | ENSP00000452055.1:n.-57+80254T>G | |
| ENST00000557294.5:c.-108-54072T>G | ENSP00000452129.1:n.-108-54072T>G | |
| XM_024449661.1:c.-121+80254T>G | XP_024305429.1:n.-121+80254T>G |