gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.9766834 (EAS)
Genomes Max Group AF
0.9766834 (EAS)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.76346148G>C , CM000676.2:g.76346148G>C | GRCh38 |
| NC_000014.8:g.76812491G>C , CM000676.1:g.76812491G>C | GRCh37 |
| NC_000014.7:g.75882244G>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000512784.6:c.2+35232G>C | ENSP00000424992.2:n.2+35232G>C | |
| ENST00000512784.5:c.2+35232G>C | ENSP00000424992.1:n.2+35232G>C |