gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.55006798 (EAS)
Genomes Max Group AF
0.55006798 (EAS)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.11597897T>C , CM000678.2:g.11597897T>C | GRCh38 |
| NC_000016.9:g.11691753T>C , CM000678.1:g.11691753T>C | GRCh37 |
| NC_000016.8:g.11599254T>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000571627.5:c.-6+491A>G | ENSP00000460743.1:n.-6+491A>G | |
| ENST00000574848.5:c.85+35636A>G | ENSP00000459898.1:n.85+35636A>G | |
| ENST00000576036.5:c.-6+31226A>G | ENSP00000461667.1:n.-6+31226A>G | |
| ENST00000576334.1:c.85+35636A>G | ENSP00000458538.1:n.85+35636A>G | |
| XM_011522754.1:c.85+35636A>G | XP_011521056.1:n.85+35636A>G | |
| XM_011522754.3:c.85+35636A>G | XP_011521056.1:n.85+35636A>G | |
| XM_017023896.1:c.-6+31226A>G | XP_016879385.1:n.-6+31226A>G |