gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.9176785 (NFE)
Genomes Max Group AF
0.9176785 (NFE)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.89492920A>C , CM000673.2:g.89492920A>C | GRCh38 |
| NC_000011.9:g.89226088A>C , CM000673.1:g.89226088A>C | GRCh37 |
| NC_000011.8:g.88865736A>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000527956.5:c.-114-701T>G | ENSP00000433797.1:n.-114-701T>G | |
| NM_001143837.1:c.-114-701T>G | NP_001137309.1:n.-114-701T>G | |
| XM_011542857.1:c.-15-2367T>G | XP_011541159.1:n.-15-2367T>G | |
| XM_011542858.1:c.-114-701T>G | XP_011541160.1:n.-114-701T>G | |
| XM_011542857.2:c.-15-2367T>G | XP_011541159.1:n.-15-2367T>G | |
| NM_001143837.2:c.-114-701T>G | NP_001137309.2:n.-114-701T>G |