gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.15019931 (SAS)
Genomes Max Group AF
0.15019931 (SAS)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.35187397G>A , CM000682.2:g.35187397G>A | GRCh38 |
| NC_000020.10:g.33775200G>A , CM000682.1:g.33775200G>A | GRCh37 |
| NC_000020.9:g.33238861G>A | NCBI36 |
| NG_032899.2:g.20427G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000634509.1:c.94+10951G>A | ENSP00000489456.1:n.94+10951G>A | |
| ENST00000635377.1:c.630+10182G>A | ||
| XM_011528496.1:c.601+10951G>A | XP_011526798.1:n.601+10951G>A | |
| NM_001355008.1:c.-101-21526C>T | NP_001341937.1:n.-101-21526C>T | |
| NM_001355008.2:c.-101-21526C>T | NP_001341937.1:n.-101-21526C>T |