gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.62746426 (EAS)
Genomes Max Group AF
0.62746426 (EAS)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.38244973C>T , CM000681.2:g.38244973C>T | GRCh38 |
| NC_000019.9:g.38735613C>T , CM000681.1:g.38735613C>T | GRCh37 |
| NC_000019.8:g.43427453C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000590510.5:c.-45+839C>T | ENSP00000465301.1:n.-45+839C>T |