gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.95209455 (EAS)
Genomes Max Group AF
0.95209455 (EAS)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.126377573A>G , CM000668.2:g.126377573A>G | GRCh38 |
| NC_000006.11:g.126698719A>G , CM000668.1:g.126698719A>G | GRCh37 |
| NC_000006.10:g.126740412A>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000651326.1:n.2418-70874T>C | ||
| ENST00000652383.1:n.631-66816T>C | ||
| NR_104462.1:n.725+31255A>G | ||
| NR_104462.2:n.399+31255A>G |