gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.67818028 (EAS)
Genomes Max Group AF
0.67818028 (EAS)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.148466252A>C , CM000667.2:g.148466252A>C | GRCh38 |
| NC_000005.9:g.147845815A>C , CM000667.1:g.147845815A>C | GRCh37 |
| NC_000005.8:g.147826008A>C | NCBI36 |
| NG_029052.1:g.192925T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000521530.6:c.1077-14980T>G | ENSP00000428320.1:n.1077-14980T>G | |
| ENST00000521530.5:c.1077-14980T>G | ENSP00000428320.1:n.1077-14980T>G | |
| ENST00000521735.5:c.1077-327T>G | ENSP00000430979.1:n.1077-327T>G | |
| ENST00000522588.5:c.1077-327T>G | ENSP00000430874.1:n.1077-327T>G | |
| NM_001040169.2:c.1077-14980T>G | NP_001035259.1:n.1077-14980T>G | |
| NM_199453.3:c.1077-327T>G | NP_955525.1:n.1077-327T>G | |
| XR_001742935.1:n.679-2668A>C |