gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.31059704 (NFE)
Genomes Max Group AF
0.31059704 (NFE)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.206853059T>C , CM000664.2:g.206853059T>C | GRCh38 |
| NC_000002.11:g.207717783T>C , CM000664.1:g.207717783T>C | GRCh37 |
| NC_000002.10:g.207426028T>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| XR_923807.1:n.271-10337T>C | ||
| XR_923808.1:n.271-10337T>C | ||
| XM_017003372.2:c.-8086-10337T>C | XP_016858861.1:n.-8086-10337T>C |