gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.60477029 (AFR)
Genomes Max Group AF
0.60477029 (AFR)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.132640550A>G , CM000669.2:g.132640550A>G | GRCh38 |
| NC_000007.13:g.132325309A>G , CM000669.1:g.132325309A>G | GRCh37 |
| NC_000007.12:g.131975849A>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000378539.5:c.-87+5378T>C | ENSP00000367800.5:n.-87+5378T>C | |
| NM_181775.3:c.-87+5378T>C | NP_861440.2:n.-87+5378T>C | |
| NM_181775.4:c.-87+5378T>C | NP_861440.2:n.-87+5378T>C |