gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.67789428 (EAS)
Genomes Max Group AF
0.67789428 (EAS)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.148462790T>C , CM000667.2:g.148462790T>C | GRCh38 |
| NC_000005.9:g.147842353T>C , CM000667.1:g.147842353T>C | GRCh37 |
| NC_000005.8:g.147822546T>C | NCBI36 |
| NG_029052.1:g.196387A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000521530.6:c.1077-11518A>G | ENSP00000428320.1:n.1077-11518A>G | |
| ENST00000521530.5:c.1077-11518A>G | ENSP00000428320.1:n.1077-11518A>G | |
| ENST00000521735.5:c.*15+3060A>G | ENSP00000430979.1:n.*15+3060A>G | |
| ENST00000522588.5:c.1153-847A>G | ENSP00000430874.1:n.1153-847A>G | |
| NM_001040169.2:c.1077-11518A>G | NP_001035259.1:n.1077-11518A>G | |
| NM_199453.3:c.*15+3060A>G | NP_955525.1:n.*15+3060A>G | |
| XR_001742935.1:n.679-6130T>C |