gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.76478154 (SAS)
Genomes Max Group AF
0.76478154 (SAS)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.88657760C>T , CM000663.2:g.88657760C>T | GRCh38 |
| NC_000001.10:g.89123443C>T , CM000663.1:g.89123443C>T | GRCh37 |
| NC_000001.9:g.88896031C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| NR_110682.1:n.41+27404G>A |