gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.97591542 (EAS)
Genomes Max Group AF
0.97591542 (EAS)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.134722410G>T , CM000664.2:g.134722410G>T | GRCh38 |
| NC_000002.11:g.135479980G>T , CM000664.1:g.135479980G>T | GRCh37 |
| NC_000002.10:g.135196450G>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| XM_011511949.1:c.23-9091C>A | XP_011510251.1:n.23-9091C>A | |
| XR_923354.1:n.302G>T | ||
| XR_923354.3:n.285G>T |