gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.55140096 (NFE)
Genomes Max Group AF
0.55140096 (NFE)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.5662337G>A , CM000673.2:g.5662337G>A | GRCh38 |
| NC_000011.9:g.5683567G>A , CM000673.1:g.5683567G>A | GRCh37 |
| NC_000011.8:g.5640143G>A | NCBI36 |
| NG_029122.1:g.27773C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000380259.7:c.231+15867C>T | ENSP00000369609.3:n.231+15867C>T | |
| ENST00000642298.1:n.151+3319C>T | ||
| XM_011520424.1:c.896-3019C>T | XP_011518726.1:n.896-3019C>T | |
| XM_011520425.1:c.795-3019C>T | XP_011518727.1:n.795-3019C>T | |
| XR_930919.1:n.1084-3019C>T | ||
| XM_017018462.2:c.895+3319C>T | XP_016873951.1:n.895+3319C>T | |
| XR_001748014.2:n.1173+3319C>T | ||
| XR_001748015.2:n.1072+3319C>T | ||
| XR_001748017.2:n.1150+3319C>T | ||
| XR_001748018.2:n.1022+15867C>T |