gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00041388 (AFR)
Genomes Max Group AF
0.00029997 (AFR)
Exomes Max Group AF
0.00044394 (AFR)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.792295T>C , CM000673.2:g.792295T>C | GRCh38 |
| NC_000011.9:g.792295T>C , CM000673.1:g.792295T>C | GRCh37 |
| NC_000011.8:g.782295T>C | NCBI36 |
| NG_023407.1:g.10975A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000628067.3:c.742+9A>G MANE Select | ENSP00000486058.1:n.742+9A>G | |
| ENST00000320230.9:c.742+9A>G | ENSP00000322020.5:n.742+9A>G | |
| ENST00000481290.5:c.817+9A>G | ENSP00000431829.2:n.817+9A>G | |
| ENST00000531214.5:c.742+9A>G | ENSP00000437236.1:n.742+9A>G | |
| ENST00000628067.2:c.742+9A>G | ENSP00000486058.1:n.742+9A>G | |
| NM_001191060.1:c.742+9A>G | NP_001177989.1:n.742+9A>G | |
| NM_001191061.1:c.742+9A>G | NP_001177990.1:n.742+9A>G | |
| NM_024698.5:c.742+9A>G | NP_078974.1:n.742+9A>G | |
| XM_011520369.1:c.742+9A>G | XP_011518671.1:n.742+9A>G | |
| XM_011520370.1:c.742+9A>G | XP_011518672.1:n.742+9A>G | |
| XM_011520371.1:c.742+9A>G | XP_011518673.1:n.742+9A>G | |
| XM_011520370.2:c.742+9A>G | XP_011518672.1:n.742+9A>G | |
| XM_011520371.2:c.742+9A>G | XP_011518673.1:n.742+9A>G | |
| XM_024448687.1:c.742+9A>G | XP_024304455.1:n.742+9A>G | |
| XM_024448688.1:c.742+9A>G | XP_024304456.1:n.742+9A>G | |
| XM_024448689.1:c.742+9A>G | XP_024304457.1:n.742+9A>G | |
| NM_001191061.2:c.742+9A>G MANE Select | NP_001177990.1:n.742+9A>G | |
| NM_024698.6:c.742+9A>G | NP_078974.1:n.742+9A>G | |
| NM_001191060.2:c.742+9A>G | NP_001177989.1:n.742+9A>G |