gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.84052819 (EAS)
Genomes Max Group AF
0.84052819 (EAS)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.96488606G>C , CM000669.2:g.96488606G>C | GRCh38 |
| NC_000007.13:g.96117918G>C , CM000669.1:g.96117918G>C | GRCh37 |
| NC_000007.12:g.95955854G>C | NCBI36 |
| NG_009273.2:g.226286C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000356686.2:c.13-2189C>G | ENSP00000349114.1:n.13-2189C>G | |
| ENST00000466986.5:c.*61-2189C>G | ENSP00000481400.1:n.*61-2189C>G | |
| ENST00000493858.5:n.100-2189C>G | ||
| ENST00000611360.4:n.87-2189C>G | ||
| ENST00000613919.4:c.*253-2189C>G | ENSP00000482085.1:n.*253-2189C>G | |
| ENST00000615352.4:c.13-2189C>G | ENSP00000481021.1:n.13-2189C>G | |
| ENST00000617133.4:c.*257-2189C>G | ENSP00000484726.1:n.*257-2189C>G | |
| ENST00000618105.4:c.*117-2189C>G | ENSP00000484478.1:n.*117-2189C>G | |
| ENST00000619259.4:c.*119-2189C>G | ENSP00000480885.1:n.*119-2189C>G | |
| NM_001201450.1:c.13-2189C>G | NP_001188379.1:n.13-2189C>G | |
| NM_001201451.1:c.13-2189C>G | NP_001188380.1:n.13-2189C>G | |
| XR_927780.1:n.153-8952G>C | ||
| NM_001349698.1:c.31-2189C>G | NP_001336627.1:n.31-2189C>G | |
| NM_001349700.1:c.31-2189C>G | NP_001336629.1:n.31-2189C>G | |
| NM_001349701.1:c.13-2189C>G | NP_001336630.1:n.13-2189C>G | |
| NM_001349702.1:c.13-2189C>G | NP_001336631.1:n.13-2189C>G | |
| XM_024446934.1:c.13-2189C>G | XP_024302702.1:n.13-2189C>G | |
| XR_927780.2:n.209-8952G>C | ||
| NR_163948.1:n.100-2189C>G | ||
| NR_163949.1:n.100-2189C>G | ||
| NR_163950.1:n.537-2189C>G | ||
| NR_163951.1:n.330-2189C>G | ||
| NR_163952.1:n.517-2189C>G | ||
| NR_163953.1:n.388-2189C>G |