gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.5914013 (EAS)
Genomes Max Group AF
0.58818198 (EAS)
Exomes Max Group AF
0.58152897 (EAS)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.67126053A>G , CM000677.2:g.67126053A>G | GRCh38 |
| NC_000015.9:g.67418391A>G , CM000677.1:g.67418391A>G | GRCh37 |
| NC_000015.8:g.65205445A>G | NCBI36 |
| NG_011990.1:g.65197A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000559460.6:c.-109-38842A>G | ENSP00000453082.2:n.-109-38842A>G | |
| ENST00000560424.2:c.207-38842A>G | ENSP00000455540.2:n.207-38842A>G | |
| ENST00000327367.9:c.207-38842A>G MANE Select | ENSP00000332973.4:n.207-38842A>G | |
| ENST00000679624.1:c.-109-38842A>G | ENSP00000505445.1:n.-109-38842A>G | |
| ENST00000327367.8:c.207-38842A>G | ENSP00000332973.4:n.207-38842A>G | |
| ENST00000540846.6:c.-110+69A>G | ENSP00000437757.2:n.-110+69A>G | |
| ENST00000559092.1:c.151+27029A>G | ENSP00000453788.1:n.151+27029A>G | |
| ENST00000559460.5:c.-109-38842A>G | ENSP00000453082.1:n.-109-38842A>G | |
| ENST00000559937.1:n.57-38842A>G | ||
| ENST00000560175.5:c.-110+27285A>G | ENSP00000455095.1:n.-110+27285A>G | |
| NM_001145102.1:c.-110+69A>G | NP_001138574.1:n.-110+69A>G | |
| NM_005902.3:c.207-38842A>G | NP_005893.1:n.207-38842A>G | |
| XM_011521559.1:c.207-38842A>G | XP_011519861.1:n.207-38842A>G | |
| XM_011521560.1:c.59+27029A>G | XP_011519862.1:n.59+27029A>G | |
| XM_011521559.3:c.207-38842A>G | XP_011519861.1:n.207-38842A>G | |
| NM_005902.4:c.207-38842A>G MANE Select | NP_005893.1:n.207-38842A>G | |
| NM_001145102.2:c.-110+69A>G | NP_001138574.1:n.-110+69A>G |