gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.67457442 (EAS)
Genomes Max Group AF
0.67457442 (EAS)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.104952962A>G , CM000668.2:g.104952962A>G | GRCh38 |
| NC_000006.11:g.105400837A>G , CM000668.1:g.105400837A>G | GRCh37 |
| NC_000006.10:g.105507530A>G | NCBI36 |
| NG_032815.1:g.915A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000635857.1:c.67+2453A>G | ENSP00000489735.1:n.67+2453A>G | |
| ENST00000637759.1:c.34+2453A>G | ENSP00000490468.1:n.34+2453A>G | |
| XM_006715477.2:c.67+2453A>G | XP_006715540.2:n.67+2453A>G | |
| XM_011535818.1:c.34+2453A>G | XP_011534120.1:n.34+2453A>G | |
| XM_011535818.3:c.34+2453A>G | XP_011534120.1:n.34+2453A>G |