gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.1386098 (EAS)
Genomes Max Group AF
0.1386098 (EAS)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.173208097C>T , CM000663.2:g.173208097C>T | GRCh38 |
| NC_000001.10:g.173177236C>T , CM000663.1:g.173177236C>T | GRCh37 |
| NC_000001.9:g.171443859C>T | NCBI36 |
| NG_011477.1:g.4236G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| XM_011509964.2:c.148G>A | XP_011508266.2:p.Asp50Asn | |
| XM_017002229.1:c.25-912G>A | XP_016857718.1:n.25-912G>A | |
| XM_017002230.1:c.19-912G>A | XP_016857719.1:n.19-912G>A |