gnomAD v2:
gnomAD v4:
Joint Max Group AF
0.00002971 (SAS)
Exomes Max Group AF
0.00003116 (SAS)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.63478093C>T , CM000679.2:g.63478093C>T | GRCh38 |
| NC_000017.10:g.61555454C>T , CM000679.1:g.61555454C>T | GRCh37 |
| NC_000017.9:g.58909186C>T | NCBI36 |
| NG_011648.1:g.6021C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000290866.10:c.412C>T MANE Select | ENSP00000290866.4:p.Gln138Ter | |
| ENST00000290866.9:c.412C>T | ENSP00000290866.4:p.Gln138Ter | |
| ENST00000428043.5:c.412C>T | ENSP00000397593.2:p.Gln138Ter | |
| ENST00000579462.1:n.437C>T | ||
| ENST00000580318.1:n.601C>T | ||
| ENST00000582627.1:c.412C>T | ENSP00000462280.1:p.Gln138Ter | |
| ENST00000582678.5:c.412C>T | ENSP00000462995.1:p.Gln138Ter | |
| ENST00000583336.5:n.446C>T | ||
| ENST00000584529.5:n.446C>T | ||
| NM_000789.3:c.412C>T | NP_000780.1:p.Gln138Ter | |
| XM_005257110.1:c.-44C>T | XP_005257167.1:n.-44C>T | |
| NM_000789.4:c.412C>T MANE Select | NP_000780.1:p.Gln138Ter | |
| NM_001382700.1:c.177C>T | NP_001369629.1:p.Gly59= | |
| NM_001382701.1:c.-203C>T | NP_001369630.1:n.-203C>T |