gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00012291 (AFR)
Genomes Max Group AF
0.00004741 (AFR)
Exomes Max Group AF
0.00016138 (AFR)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.119969753G>C , CM000663.2:g.119969753G>C | GRCh38 |
| NC_000001.10:g.120512376G>C , CM000663.1:g.120512376G>C | GRCh37 |
| NC_000001.9:g.120313899G>C | NCBI36 |
| NG_008163.1:g.104901C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000256646.7:c.875-9C>G MANE Select | ENSP00000256646.2:n.875-9C>G | |
| ENST00000640021.1:c.95-9C>G | ENSP00000492223.1:n.95-9C>G | |
| ENST00000256646.6:c.875-9C>G | ENSP00000256646.2:n.875-9C>G | |
| ENST00000479412.2:n.1013-9C>G | ||
| ENST00000579475.7:c.758-9C>G | ENSP00000477065.2:n.758-9C>G | |
| NM_001200001.1:c.875-9C>G | NP_001186930.1:n.875-9C>G | |
| NM_024408.3:c.875-9C>G | NP_077719.2:n.875-9C>G | |
| XM_005270901.2:c.758-9C>G | XP_005270958.1:n.758-9C>G | |
| XM_011541519.1:c.863-9C>G | XP_011539821.1:n.863-9C>G | |
| XM_011541520.1:c.758-9C>G | XP_011539822.1:n.758-9C>G | |
| NM_024408.4:c.875-9C>G MANE Select | NP_077719.2:n.875-9C>G | |
| NM_001200001.2:c.875-9C>G | NP_001186930.1:n.875-9C>G |