gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.93702457 (EAS)
Genomes Max Group AF
0.93702457 (EAS)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.75640990T>C , CM000663.2:g.75640990T>C | GRCh38 |
| NC_000001.10:g.76106675T>C , CM000663.1:g.76106675T>C | GRCh37 |
| NC_000001.9:g.75879263T>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| XM_011540981.1:c.-74+68035A>G | XP_011539283.1:n.-74+68035A>G | |
| XM_011540982.1:c.-74+1383A>G | XP_011539284.1:n.-74+1383A>G | |
| XM_011540984.1:c.-70+1383A>G | XP_011539286.1:n.-70+1383A>G | |
| XM_017000609.1:c.-70+1383A>G | XP_016856098.1:n.-70+1383A>G | |
| XM_017000610.1:c.-70+1383A>G | XP_016856099.1:n.-70+1383A>G |