gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.95119398 (AFR)
Genomes Max Group AF
0.95119398 (AFR)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.66031567T>C , CM000664.2:g.66031567T>C | GRCh38 |
| NC_000002.11:g.66258701T>C , CM000664.1:g.66258701T>C | GRCh37 |
| NC_000002.10:g.66112205T>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| XR_940203.1:n.194-40937T>C | ||
| XR_940204.1:n.306-40937T>C | ||
| XR_940205.1:n.194-40937T>C | ||
| XR_002959400.1:n.341+15158T>C | ||
| XR_002959401.1:n.201-40937T>C | ||
| XR_940205.2:n.201-40937T>C |