gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.24017486 (AFR)
Genomes Max Group AF
0.24017486 (AFR)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.13675353T>C , CM000674.2:g.13675353T>C | GRCh38 |
| NC_000012.11:g.13828287T>C , CM000674.1:g.13828287T>C | GRCh37 |
| NC_000012.10:g.13719554T>C | NCBI36 |
| NG_031854.1:g.309736A>G | |
| NG_031854.2:g.311660A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000609686.4:c.1125+392A>G MANE Select | ENSP00000477455.1:n.1125+392A>G | |
| ENST00000630791.2:c.1125+392A>G | ENSP00000486677.2:n.1125+392A>G | |
| ENST00000636855.1:n.23+392A>G | ||
| ENST00000636856.1:n.76+392A>G | ||
| ENST00000609686.3:c.1125+392A>G | ENSP00000477455.1:n.1125+392A>G | |
| NM_000834.3:c.1125+392A>G | NP_000825.2:n.1125+392A>G | |
| XM_011520628.1:c.1125+392A>G | XP_011518930.1:n.1125+392A>G | |
| XM_011520629.1:c.1125+392A>G | XP_011518931.1:n.1125+392A>G | |
| XM_011520630.1:c.1125+392A>G | XP_011518932.1:n.1125+392A>G | |
| NM_000834.4:c.1125+392A>G | NP_000825.2:n.1125+392A>G | |
| XM_011520628.2:c.1125+392A>G | XP_011518930.1:n.1125+392A>G | |
| XM_011520629.2:c.1125+392A>G | XP_011518931.1:n.1125+392A>G | |
| XM_017019219.2:c.1125+392A>G | XP_016874708.1:n.1125+392A>G | |
| NM_000834.5:c.1125+392A>G MANE Select | NP_000825.2:n.1125+392A>G |