gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.3283789 (SAS)
Genomes Max Group AF
0.3283789 (SAS)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.37713399T>C , CM000664.2:g.37713399T>C | GRCh38 |
| NC_000002.11:g.37940542T>C , CM000664.1:g.37940542T>C | GRCh37 |
| NC_000002.10:g.37794046T>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000453555.1:c.-333+6139A>G | ENSP00000398062.1:n.-333+6139A>G |