gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.61455148 (EAS)
Genomes Max Group AF
0.61455148 (EAS)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.166521468A>C , CM000664.2:g.166521468A>C | GRCh38 |
| NC_000002.11:g.167377978A>C , CM000664.1:g.167377978A>C | GRCh37 |
| NC_000002.10:g.167086224A>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000650747.1:c.-14-43758T>G | ENSP00000498959.1:n.-14-43758T>G | |
| XR_923553.1:n.1142+20708A>C | ||
| XR_923554.1:n.1425+20708A>C |