gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.43934945 (NFE)
Genomes Max Group AF
0.43934945 (NFE)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.88322666C>T , CM000666.2:g.88322666C>T | GRCh38 |
| NC_000004.11:g.89243818C>T , CM000666.1:g.89243818C>T | GRCh37 |
| NC_000004.10:g.89462842C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| XR_244670.3:n.641+3241C>T | ||
| XR_938963.1:n.641+3241C>T | ||
| NR_134236.1:n.425+3241C>T | ||
| NR_134237.1:n.349+3241C>T | ||
| NR_134238.1:n.330+5859C>T |