gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.07825369 (NFE)
Genomes Max Group AF
0.07825369 (NFE)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.203867285C>T , CM000664.2:g.203867285C>T | GRCh38 |
| NC_000002.11:g.204732008C>T , CM000664.1:g.204732008C>T | GRCh37 |
| NC_000002.10:g.204440253C>T | NCBI36 |
| NG_011502.1:g.4500C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000696479.1:c.48-633C>T | ENSP00000512655.1:n.48-633C>T |