gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.83499113 (EAS)
Genomes Max Group AF
0.83499113 (EAS)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.217030033T>C , CM000664.2:g.217030033T>C | GRCh38 |
| NC_000002.11:g.217894756T>C , CM000664.1:g.217894756T>C | GRCh37 |
| NC_000002.10:g.217603001T>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| XR_923881.1:n.299+36015T>C | ||
| XR_923883.1:n.294+36015T>C | ||
| XR_923885.1:n.862+36015T>C | ||
| XR_923886.1:n.359-25158T>C | ||
| XR_923887.1:n.300-25158T>C | ||
| XR_001739169.1:n.11844+36015T>C | ||
| XR_001739170.2:n.8480+36015T>C | ||
| XR_001739171.2:n.8347+36015T>C |