gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00000953 (NFE)
Exomes Max Group AF
0.00000931 (NFE)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.119422059dup , CM000663.2:g.119422059dup | GRCh38 |
| NC_000001.10:g.119964682dup , CM000663.1:g.119964682dup | GRCh37 |
| NC_000001.9:g.119766205dup | NCBI36 |
| NG_013349.1:g.12129dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000369416.4:c.558dup MANE Select | ENSP00000358424.3:p.Thr187HisfsTer17 | |
| ENST00000369416.3:c.558dup | ENSP00000358424.3:p.Thr187HisfsTer17 | |
| ENST00000433745.5:c.558dup | ENSP00000388292.1:p.Thr187HisfsTer? | |
| ENST00000543831.5:c.558dup | ENSP00000445122.1:p.Thr187HisfsTer17 | |
| NM_000198.3:c.558dup | NP_000189.1:p.Thr187HisfsTer17 | |
| NM_001166120.1:c.558dup | NP_001159592.1:p.Thr187HisfsTer17 | |
| NM_000198.4:c.558dup MANE Select | NP_000189.1:p.Thr187HisfsTer17 | |
| NM_001166120.2:c.558dup | NP_001159592.1:p.Thr187HisfsTer17 |