gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.13638902 (EAS)
Genomes Max Group AF
0.13638902 (EAS)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.55089225A>C , CM000672.2:g.55089225A>C | GRCh38 |
| NC_000010.10:g.56848985A>C , CM000672.1:g.56848985A>C | GRCh37 |
| NC_000010.9:g.56518991A>C | NCBI36 |
| NG_009191.3:g.544958T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000458638.1:c.-80+77351T>G | ENSP00000394465.1:n.-80+77351T>G | |
| ENST00000613346.4:c.-80+77351T>G | ENSP00000481211.1:n.-80+77351T>G | |
| NM_001354404.1:c.-80+77351T>G | NP_001341333.1:n.-80+77351T>G | |
| XM_017016573.2:c.-157+77351T>G | XP_016872062.1:n.-157+77351T>G | |
| NM_001354404.2:c.-80+77351T>G | NP_001341333.1:n.-80+77351T>G |