gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00000247 (NFE)
Exomes Max Group AF
0.00000194 (NFE)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.97584820C>A , CM000672.2:g.97584820C>A | GRCh38 |
| NC_000010.10:g.99344577C>A , CM000672.1:g.99344577C>A | GRCh37 |
| NC_000010.9:g.99334567C>A | NCBI36 |
| NG_027922.1:g.5476C>A | |
| NG_034079.1:g.17380C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000370646.9:c.117C>A MANE Select | ENSP00000359680.4:p.Tyr39Ter | |
| ENST00000370646.8:c.117C>A | ENSP00000359680.4:p.Tyr39Ter | |
| ENST00000370647.8:c.117C>A | ENSP00000359681.4:p.Tyr39Ter | |
| ENST00000370649.3:c.117C>A | ENSP00000359683.3:p.Tyr39Ter | |
| ENST00000465608.1:n.498C>A | ||
| NM_001134670.1:c.117C>A | NP_001128142.1:p.Tyr39Ter | |
| NM_138413.3:c.117C>A | NP_612422.2:p.Tyr39Ter | |
| NM_138413.4:c.117C>A MANE Select | NP_612422.2:p.Tyr39Ter | |
| NM_001134670.2:c.117C>A | NP_001128142.1:p.Tyr39Ter |