gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00016548 (NFE)
Genomes Max Group AF
0.00002847 (NFE)
Exomes Max Group AF
0.00017115 (NFE)
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.76345866_76345867del , CM000674.2:g.76345866_76345867del | GRCh38 |
| NC_000012.11:g.76739646_76739647del , CM000674.1:g.76739646_76739647del | GRCh37 |
| NC_000012.10:g.75263777_75263778del | NCBI36 |
| NG_016357.1:g.7577_7578del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000650064.2:c.2119_2120del MANE Select | ENSP00000497413.1:p.Val707Ter | |
| ENST00000393262.3:c.2119_2120del | ENSP00000376946.3:p.Val707Ter | |
| NM_024685.3:c.2119_2120del | NP_078961.3:p.Val707Ter | |
| NM_024685.4:c.2119_2120del MANE Select | NP_078961.3:p.Val707Ter |