gnomAD v4:
Joint Max Group AF
0.00000359 (NFE)
Exomes Max Group AF
0.00000381 (NFE)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.132603989C>T , CM000667.2:g.132603989C>T | GRCh38 |
| NC_000005.9:g.131939681C>T , CM000667.1:g.131939681C>T | GRCh37 |
| NC_000005.8:g.131967580C>T | NCBI36 |
| NG_021151.1:g.52066C>T | |
| NG_021151.2:g.52013C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000378823.8:c.2467C>T MANE Select | ENSP00000368100.4:p.Arg823Ter | |
| ENST00000638452.2:c.2170C>T | ENSP00000492349.2:p.Arg724Ter | |
| ENST00000638504.1:n.2075C>T | ||
| ENST00000638568.2:c.2170C>T | ENSP00000491158.2:p.Arg724Ter | |
| ENST00000639899.1:n.2986C>T | ||
| ENST00000640655.2:c.2170C>T | ENSP00000491596.2:p.Arg724Ter | |
| ENST00000651160.1:c.*611C>T | ENSP00000498829.1:n.*611C>T | |
| ENST00000651658.1:n.3010C>T | ||
| ENST00000651723.1:c.*2550C>T | ENSP00000498237.1:n.*2550C>T | |
| ENST00000652016.1:c.*684C>T | ENSP00000498267.1:n.*684C>T | |
| ENST00000652485.1:c.2500C>T | ENSP00000498973.1:p.Arg834Ter | |
| ENST00000378823.7:c.2467C>T | ENSP00000368100.4:p.Arg823Ter | |
| ENST00000423956.5:c.*653C>T | ENSP00000390971.1:n.*653C>T | |
| ENST00000533482.5:c.*2093C>T | ENSP00000431225.1:n.*2093C>T | |
| NM_005732.3:c.2467C>T | NP_005723.2:p.Arg823Ter | |
| NM_005732.4:c.2467C>T MANE Select | NP_005723.2:p.Arg823Ter |