gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.71945828 (NFE)
Genomes Max Group AF
0.71945828 (NFE)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.34170674T>C , CM000665.2:g.34170674T>C | GRCh38 |
| NC_000003.11:g.34212166T>C , CM000665.1:g.34212166T>C | GRCh37 |
| NC_000003.10:g.34187170T>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| XR_245201.3:n.110-171T>C | ||
| XR_940705.1:n.110-171T>C | ||
| XR_940707.1:n.80-171T>C | ||
| XR_940708.1:n.76-171T>C | ||
| XR_001740638.1:n.59-171T>C | ||
| XR_001740639.1:n.272-171T>C | ||
| XR_002959622.1:n.68-171T>C | ||
| XR_002959623.1:n.272-171T>C |