gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.95501651 (EAS)
Genomes Max Group AF
0.95501651 (EAS)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.184498342T>C , CM000665.2:g.184498342T>C | GRCh38 |
| NC_000003.11:g.184216130T>C , CM000665.1:g.184216130T>C | GRCh37 |
| NC_000003.10:g.185698824T>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000444495.1:c.2107-186144T>C | ENSP00000409142.1:n.2107-186144T>C | |
| XR_924789.1:n.448-5418T>C |