gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.95587267 (EAS)
Genomes Max Group AF
0.95587267 (EAS)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.139324394C>G , CM000665.2:g.139324394C>G | GRCh38 |
| NC_000003.11:g.139043236C>G , CM000665.1:g.139043236C>G | GRCh37 |
| NC_000003.10:g.140525926C>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000684961.1:c.-42-23766C>G | ENSP00000508439.1:n.-42-23766C>G | |
| ENST00000687538.1:c.-38-22484C>G | ENSP00000508887.1:n.-38-22484C>G | |
| ENST00000688697.1:c.-71-19562C>G | ENSP00000510396.1:n.-71-19562C>G | |
| ENST00000489521.1:n.489-19562C>G | ||
| ENST00000495075.5:c.-71-19562C>G | ENSP00000418008.1:n.-71-19562C>G | |
| ENST00000495225.1:c.83-22484C>G | ENSP00000417104.1:n.83-22484C>G |