gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.41402113 (EAS)
Genomes Max Group AF
0.41402113 (EAS)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.40530651A>G , CM000664.2:g.40530651A>G | GRCh38 |
| NC_000002.11:g.40757791A>G , CM000664.1:g.40757791A>G | GRCh37 |
| NC_000002.10:g.40611295A>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000405269.5:c.-25+80279T>C | ENSP00000385535.1:n.-25+80279T>C | |
| XR_244991.3:n.1327-2538A>G | ||
| XR_427021.2:n.1232-2538A>G | ||
| XR_939982.1:n.1483-2538A>G | ||
| XR_939983.1:n.1326-2538A>G | ||
| XR_244991.4:n.343-2538A>G | ||
| XR_427021.4:n.264-2538A>G | ||
| XR_939982.2:n.422-2538A>G | ||
| XR_939983.3:n.343-2538A>G |