gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.46679343 (EAS)
Genomes Max Group AF
0.46137853 (EAS)
Exomes Max Group AF
0.48381026 (AMR)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.108894208A>G , CM000674.2:g.108894208A>G | GRCh38 |
| NC_000012.11:g.109287984A>G , CM000674.1:g.109287984A>G | GRCh37 |
| NC_000012.10:g.107812113A>G | NCBI36 |
| NG_023236.1:g.19128A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000228476.8:c.508-55A>G MANE Select | ENSP00000228476.3:n.508-55A>G | |
| ENST00000228476.7:c.508-55A>G | ENSP00000228476.3:n.508-55A>G | |
| ENST00000547122.5:c.*156-55A>G | ENSP00000448095.1:n.*156-55A>G | |
| ENST00000547166.1:c.508-55A>G | ENSP00000447104.1:n.508-55A>G | |
| ENST00000547768.5:c.139-55A>G | ENSP00000449967.1:n.139-55A>G | |
| ENST00000549215.5:c.*59-55A>G | ENSP00000449248.1:n.*59-55A>G | |
| ENST00000551281.5:c.310-55A>G | ENSP00000446853.1:n.310-55A>G | |
| NM_001917.4:c.508-55A>G | NP_001908.3:n.508-55A>G | |
| XM_005268692.2:c.442-55A>G | XP_005268749.1:n.442-55A>G | |
| XM_011538004.1:c.508-55A>G | XP_011536306.1:n.508-55A>G | |
| XM_011538005.1:c.508-55A>G | XP_011536307.1:n.508-55A>G | |
| XM_005268692.4:c.442-55A>G | XP_005268749.1:n.442-55A>G | |
| XM_011538004.2:c.508-55A>G | XP_011536306.1:n.508-55A>G | |
| XM_011538005.2:c.508-55A>G | XP_011536307.1:n.508-55A>G | |
| NM_001917.5:c.508-55A>G MANE Select | NP_001908.3:n.508-55A>G |