gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.06951981 (SAS)
Genomes Max Group AF
0.06951981 (SAS)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.143577757A>G , CM000668.2:g.143577757A>G | GRCh38 |
| NC_000006.11:g.143898894A>G , CM000668.1:g.143898894A>G | GRCh37 |
| NC_000006.10:g.143940587A>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000367584.8:c.217+40550A>G | ENSP00000356556.4:n.217+40550A>G | |
| NM_001394736.1:c.217+40550A>G | NP_001381665.1:n.217+40550A>G |