gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.14365301 (EAS)
Genomes Max Group AF
0.14365301 (EAS)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.100388364dup , CM000668.2:g.100388364dup | GRCh38 |
| NC_000006.11:g.100836240dup , CM000668.1:g.100836240dup | GRCh37 |
| NC_000006.10:g.100942961dup | NCBI36 |
| NG_008230.1:g.80319dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000369208.8:c.*2004dup MANE Select | ENSP00000358210.4:n.*2004dup | |
| ENST00000369208.7:c.*2004dup | ENSP00000358210.3:n.*2004dup | |
| XM_005267100.2:c.*2004dup | XP_005267157.1:n.*2004dup | |
| XM_017011197.1:c.*2004dup | XP_016866686.1:n.*2004dup | |
| NM_001374769.1:c.*2004dup | NP_001361698.1:n.*2004dup | |
| NM_005068.3:c.*2004dup MANE Select | NP_005059.2:n.*2004dup |