gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.14163272 (AFR)
Genomes Max Group AF
0.14163272 (AFR)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.23369274G>A , CM000664.2:g.23369274G>A | GRCh38 |
| NC_000002.11:g.23592145G>A , CM000664.1:g.23592145G>A | GRCh37 |
| NC_000002.10:g.23445650G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| XR_939827.1:n.2853+5366C>T | ||
| XR_939828.1:n.1754+5366C>T | ||
| XR_939829.1:n.1611+5366C>T | ||
| XR_001739338.2:n.2492+5747C>T | ||
| XR_939828.3:n.1774+5366C>T | ||
| XR_939829.3:n.1631+5366C>T |