gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.97785579 (NFE)
Genomes Max Group AF
0.97785579 (NFE)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.46046599_46046600dup , CM000672.2:g.46046599_46046600dup | GRCh38 |
| NC_000010.10:g.51549222_51549223dup , CM000672.1:g.51549222_51549223dup | GRCh37 |
| NC_000010.9:g.51219228_51219229dup | NCBI36 |
| NG_011551.1:g.4670_4671dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000663171.1:c.-142-221_-142-220dup | ENSP00000499419.1:n.-142-221_-142-220dup |