gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.25260603 (NFE)
Genomes Max Group AF
0.25260603 (NFE)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.102869254T>C , CM000672.2:g.102869254T>C | GRCh38 |
| NC_000010.10:g.104629011T>C , CM000672.1:g.104629011T>C | GRCh37 |
| NC_000010.9:g.104619001T>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000299353.6:c.*9-551T>C | ENSP00000299353.5:n.*9-551T>C | |
| NR_037644.1:n.407-551T>C | ||
| XR_946274.1:n.75+84A>G |