gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00000292 (NFE)
Exomes Max Group AF
0.00000262 (NFE)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.63480479C>A , CM000679.2:g.63480479C>A | GRCh38 |
| NC_000017.10:g.61557840C>A , CM000679.1:g.61557840C>A | GRCh37 |
| NC_000017.9:g.58911572C>A | NCBI36 |
| NG_011648.1:g.8407C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000290866.10:c.798C>A MANE Select | ENSP00000290866.4:p.Tyr266Ter | |
| ENST00000290866.9:c.798C>A | ENSP00000290866.4:p.Tyr266Ter | |
| ENST00000428043.5:c.798C>A | ENSP00000397593.2:p.Tyr266Ter | |
| ENST00000582627.1:c.798C>A | ENSP00000462280.1:p.Tyr266Ter | |
| ENST00000582678.5:c.*197C>A | ENSP00000462995.1:n.*197C>A | |
| ENST00000584529.5:n.832C>A | ||
| NM_000789.3:c.798C>A | NP_000780.1:p.Tyr266Ter | |
| XM_005257110.1:c.249C>A | XP_005257167.1:p.Tyr83Ter | |
| NM_000789.4:c.798C>A MANE Select | NP_000780.1:p.Tyr266Ter | |
| NM_001382700.1:c.325C>A | NP_001369629.1:p.Arg109= | |
| NM_001382701.1:c.-55C>A | NP_001369630.1:n.-55C>A |