gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.66149437 (NFE)
Genomes Max Group AF
0.66149437 (NFE)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.24795181C>T , CM000666.2:g.24795181C>T | GRCh38 |
| NC_000004.11:g.24796803C>T , CM000666.1:g.24796803C>T | GRCh37 |
| NC_000004.10:g.24405901C>T | NCBI36 |
| NG_012213.1:g.4719C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000598411.1:c.-16-4325C>T | ENSP00000472134.1:n.-16-4325C>T |