gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.44371955 (SAS)
Genomes Max Group AF
0.42691544 (SAS)
Exomes Max Group AF
0.45842092 (AMR)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.120169734T>G , CM000673.2:g.120169734T>G | GRCh38 |
| NC_000011.9:g.120040442T>G , CM000673.1:g.120040442T>G | GRCh37 |
| NC_000011.8:g.119545652T>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000529040.1:c.-115+15476A>C | ENSP00000433084.1:n.-115+15476A>C | |
| ENST00000532833.1:c.-115+15516A>C | ENSP00000436567.1:n.-115+15516A>C | |
| XM_011542731.1:c.-115+15516A>C | XP_011541033.1:n.-115+15516A>C | |
| XR_110528.5:n.606-37T>G | ||
| XM_017018645.2:c.-76T>G | XP_016874134.1:n.-76T>G | |
| NR_159965.1:n.173-37T>G |