gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.13054598 (AMR)
Genomes Max Group AF
0.13054598 (AMR)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.120156040G>A , CM000673.2:g.120156040G>A | GRCh38 |
| NC_000011.9:g.120026748G>A , CM000673.1:g.120026748G>A | GRCh37 |
| NC_000011.8:g.119531958G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000529040.1:c.-114-17895C>T | ENSP00000433084.1:n.-114-17895C>T | |
| ENST00000532833.1:c.-114-17895C>T | ENSP00000436567.1:n.-114-17895C>T | |
| XM_011542731.1:c.-114-17895C>T | XP_011541033.1:n.-114-17895C>T |