gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.70494908 (AFR)
Genomes Max Group AF
0.70494908 (AFR)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000024.10:g.19456970T>C , CM000686.2:g.19456970T>C | GRCh38 |
| NC_000024.9:g.21618856T>C , CM000686.1:g.21618856T>C | GRCh37 |
| NC_000024.8:g.20078244T>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000650676.1:n.2163-106A>G | ||
| ENST00000400605.5:n.2217+87A>G | ||
| ENST00000441139.5:n.2028-106A>G | ||
| ENST00000513194.1:n.4814-106A>G | ||
| NR_002923.2:n.2028-106A>G | ||
| NR_033732.1:n.2234+87A>G |