gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.95933955 (EAS)
Genomes Max Group AF
0.95933955 (EAS)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.223072020C>T , CM000664.2:g.223072020C>T | GRCh38 |
| NC_000002.11:g.223936738C>T , CM000664.1:g.223936738C>T | GRCh37 |
| NC_000002.10:g.223644982C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000488477.2:n.189+11317C>T |